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1. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

Author

Iruzubieta, Pablo, Alves, César Augusto Pinheiro Ferreira, Al Shamsi, Aisha M., ElGhazali, Gehad, Zaki, Maha S., Pinelli, Lorenzo, Lopergolo, Diego, Cho, Bernard P.H., Jolly, Amy A., Al Futaisi, Amna, Al-Amrani, Fatema, Galli, Jessica, Fazzi, Elisa, Vulin, Katarina, Barajas-Olmos, Francisco, Hengel, Holger, Aljamal, Bayan Mohammed, Nasr, Vahideh, Assarzadegan, Farhad, Ragno, Michele, Trojano, Luigi, Ojeda, Naomi Meave, Çakar, Arman, Bianchi, Silvia, Pescini, Francesca, Poggesi, Anna, Al Tenalji, Amal, Aziz, Majid, Mohammad, Rahema, Chedrawi, Aziza, De Stefano, Nicola, Zifarelli, Giovanni, Schöls, Ludger, Haack, Tobias B., Rebelo, Adriana, Zuchner, Stephan, Koc, Filiz, Griffiths, Lyn R., Orozco, Lorena, Helmes, Karla García, Babaei, Meisam, Bauer, Peter, Chan Jeong, Won, Karimiani, Ehsan Ghayoor, Schmidts, Miriam, Gleeson, Joseph G., Chung, Wendy K., Alkuraya, Fowzan Sami, Shalbafan, Bita, Markus, Hugh S., Houlden, Henry, and Maroofian, Reza

Published
2024
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3. Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience

Author

Fortunato, Fernanda, Bianchi, Francesca, Ricci, Giulia, Torri, Francesca, Gualandi, Francesca, Neri, Marcella, Farnè, Marianna, Giannini, Fabio, Malandrini, Alessandro, Volpi, Nila, Lopergolo, Diego, Silani, Vincenzo, Ticozzi, Nicola, Verde, Federico, Pareyson, Davide, Fenu, Silvia, Bonanno, Silvia, Nigro, Vincenzo, Peduto, Cristina, D’Ambrosio, Paola, Zeuli, Roberta, Zanobio, Mariateresa, Picillo, Esther, Servidei, Serenella, Primiano, Guido, Sancricca, Cristina, Sciacco, Monica, Brusa, Roberta, Filosto, Massimiliano, Cotti Piccinelli, Stefano, Pegoraro, Elena, Mongini, Tiziana, Solero, Luca, Gadaleta, Giulio, Brusa, Chiara, Minetti, Carlo, Bruno, Claudio, Panicucci, Chiara, Sansone, Valeria A., Lunetta, Christian, Zanolini, Alice, Toscano, Antonio, Pugliese, Alessia, Nicocia, Giulia, Bertini, Enrico, Catteruccia, Michela, Diodato, Daria, Atalaia, Antonio, Evangelista, Teresinha, Siciliano, Gabriele, and Ferlini, Alessandra

Published
2023
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4. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Author

Satterstrom, F Kyle, Kosmicki, Jack A, Wang, Jiebiao, Breen, Michael S, De Rubeis, Silvia, An, Joon-Yong, Peng, Minshi, Collins, Ryan, Grove, Jakob, Klei, Lambertus, Stevens, Christine, Reichert, Jennifer, Mulhern, Maureen S, Artomov, Mykyta, Gerges, Sherif, Sheppard, Brooke, Xu, Xinyi, Bhaduri, Aparna, Norman, Utku, Brand, Harrison, Schwartz, Grace, Nguyen, Rachel, Guerrero, Elizabeth E, Dias, Caroline, Consortium, Autism Sequencing, Aleksic, Branko, Anney, Richard, Barbosa, Mafalda, Bishop, Somer, Brusco, Alfredo, Bybjerg-Grauholm, Jonas, Carracedo, Angel, Chan, Marcus CY, Chiocchetti, Andreas G, Chung, Brian HY, Coon, Hilary, Cuccaro, Michael L, Curró, Aurora, Bernardina, Bernardo Dalla, Doan, Ryan, Domenici, Enrico, Dong, Shan, Fallerini, Chiara, Fernández-Prieto, Montserrat, Ferrero, Giovanni Battista, Freitag, Christine M, Fromer, Menachem, Gargus, J Jay, Geschwind, Daniel, Giorgio, Elisa, González-Peñas, Javier, Guter, Stephen, Halpern, Danielle, Hansen-Kiss, Emily, He, Xin, Herman, Gail E, Hertz-Picciotto, Irva, Hougaard, David M, Hultman, Christina M, Ionita-Laza, Iuliana, Jacob, Suma, Jamison, Jesslyn, Jugessur, Astanand, Kaartinen, Miia, Knudsen, Gun Peggy, Kolevzon, Alexander, Kushima, Itaru, Lee, So Lun, Lehtimäki, Terho, Lim, Elaine T, Lintas, Carla, Lipkin, W Ian, Lopergolo, Diego, Lopes, Fátima, Ludena, Yunin, Maciel, Patricia, Magnus, Per, Mahjani, Behrang, Maltman, Nell, Manoach, Dara S, Meiri, Gal, Menashe, Idan, Miller, Judith, Minshew, Nancy, Montenegro, Eduarda MS, Moreira, Danielle, Morrow, Eric M, Mors, Ole, Mortensen, Preben Bo, Mosconi, Matthew, Muglia, Pierandrea, Neale, Benjamin M, Nordentoft, Merete, Ozaki, Norio, Palotie, Aarno, Parellada, Mara, Passos-Bueno, Maria Rita, Pericak-Vance, Margaret, Persico, Antonio M, and Pessah, Isaac

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Mental Health, Pediatric, Human Genome, Clinical Research, Autism, Intellectual and Developmental Disabilities (IDD), Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Autistic Disorder, Case-Control Studies, Cell Lineage, Cerebral Cortex, Cohort Studies, Exome, Female, Gene Expression Regulation, Developmental, Gene Frequency, Genetic Predisposition to Disease, Humans, Male, Mutation, Missense, Neurobiology, Neurons, Phenotype, Sex Factors, Single-Cell Analysis, Exome Sequencing, Autism Sequencing Consortium, iPSYCH-Broad Consortium, autism spectrum disorder, cell type, cytoskeleton, excitatory neurons, excitatory-inhibitory balance, exome sequencing, genetics, inhibitory neurons, liability, neurodevelopment, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences
Abstract

We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained to have severe neurodevelopmental delay, whereas 53 show higher frequencies in individuals ascertained to have ASD; comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In cells from the human cortex, expression of risk genes is enriched in excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.

Published
2020

7. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Della Vecchia, Stefania, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Ciof, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, and Santorelli, Filippo Maria

Published
2023
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8. Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Vecchia, Stefania Della, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Cioffi, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, and Santorelli, Filippo Maria

Published
2022
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9. Developmental epileptic encephalopathy in DLG4-related synaptopathy

Author

Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, Rubboli, Guido, Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, and Rubboli, Guido

Abstract

Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy. Methods: We included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. The DLG4 variants were detected by the referring laboratories. The degree of ID, hypotonia, developmental delay, and motor disturbances were evaluated by the referring clinician. Data on awake and sleep electroencephalography (EEG) and/or video-polygraphy and brain magnetic resonance imaging were collected. Antiseizure medication response was retrospectively assessed by the referring clinician. Results: A large variety of seizure types was reported, although focal seizures were the most common. Encephalopathy related to status epilepticus during slow-wave sleep (ESES)/developmental epileptic encephalopathy with spike–wave activation during sleep (DEE-SWAS) was diagnosed in >25% of the individuals. All but one individual presented with neurodevelopmental delay. Regression in verbal and/or motor domains was observed in all individuals who suffered from ESES/DEE-SWAS, as well as some who did not. We could not identify a clear genotype–phenotype relationship even between individuals with the same DLG4 variants. Significance: Our study shows that a subgroup of individuals with DLG4-related synaptopathy have DEE, and approximately one fourth of them have ESES/DEE-SWAS. Our study confirms DEE as part of the DLG4-related phenotypic spectrum. Occurrence of ESES/DEE-SWAS in DLG4-related synaptopathy requi

Published
2024

11. CCDC78 : Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy.

Author

Lopergolo, Diego, Gallus, Gian Nicola, Pieraccini, Giuseppe, Boscaro, Francesca, Berti, Gianna, Serni, Giovanni, Volpi, Nila, Formichi, Patrizia, Bianchi, Silvia, Cassandrini, Denise, Sorrentino, Vincenzo, Rossi, Daniela, Santorelli, Filippo Maria, De Stefano, Nicola, and Malandrini, Alessandro

Subjects
*GENE expression, *MUSCLE proteins, *SARCOPLASMIC reticulum, *MESSENGER RNA, *NONSENSE mutation
Abstract

CCDC78 was identified as a novel candidate gene for autosomal dominant centronuclear myopathy-4 (CNM4) approximately ten years ago. However, to date, only one family has been described, and the function of CCDC78 remains unclear. Here, we analyze for the first time a family harboring a CCDC78 nonsense mutation to better understand the role of CCDC78 in muscle. Methods: We conducted a comprehensive histopathological analysis on muscle biopsies, including immunofluorescent assays to detect multiple sarcoplasmic proteins. We examined CCDC78 transcripts and protein using WB in CCDC78-mutated muscle tissue; these analyses were also performed on muscle, lymphocytes, and fibroblasts from healthy subjects. Subsequently, we conducted RT-qPCR and transcriptome profiling through RNA-seq to evaluate changes in gene expression associated with CCDC78 dysfunction in muscle. Lastly, coimmunoprecipitation (Co-Ip) assays and mass spectrometry (LC-MS/MS) studies were carried out on extracted muscle proteins from both healthy and mutated subjects. Results: The histopathological features in muscle showed novel histological hallmarks, which included areas of dilated and swollen sarcoplasmic reticulum (SR). We provided evidence of nonsense-mediated mRNA decay (NMD), identified the presence of novel CCDC78 transcripts in muscle and lymphocytes, and identified 1035 muscular differentially expressed genes, including several involved in the SR. Through the Co-Ip assays and LC-MS/MS studies, we demonstrated that CCDC78 interacts with two key SR proteins: SERCA1 and CASQ1. We also observed interactions with MYH1, ACTN2, and ACTA1. Conclusions: Our findings provide insight, for the first time, into the interactors and possible role of CCDC78 in skeletal muscle, locating the protein in the SR. Furthermore, our data expand on the phenotype previously associated with CCDC78 mutations, indicating potential histopathological hallmarks of the disease in human muscle. Based on our data, we can consider CCDC78 as the causative gene for CNM4. [ABSTRACT FROM AUTHOR]

Published
2024
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12. FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

Author

Mazel, Benoit, Delanne, Julian, Garde, Aurore, Racine, Caroline, Bruel, Ange‐Line, Duffourd, Yannis, Lopergolo, Diego, Santorelli, Filippo Maria, Marchi, Viviana, Pinto, Anna Maria, Mencarelli, Maria Antonietta, Canitano, Roberto, Valentino, Floriana, Papa, Filomena Tiziana, Fallerini, Chiara, Mari, Francesca, Renieri, Alessandra, Munnich, Arnold, Niclass, Tanguy, and Le Guyader, Gwenaël

Published
2024
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14. Clinical and Neuroradiological Spectrum of Biallelic Variants in NOTCH3

Author

Iruzubieta, Pablo, primary, Alves, Cesar Augusto P., additional, Al Shamsi, Aisha M., additional, ElGhazali, Gehad, additional, Zaki, Maha, additional, Pinelli, Lorenzo, additional, Lopergolo, Diego, additional, Cho, Bernard P. H., additional, Jolly, Amy, additional, Al Futaisi, Amna, additional, Al-Amrani, Fatema, additional, Galli, Jessica, additional, Fazzi, Elisa Maria, additional, Vulin, Katarina, additional, Barajas-Olmos, Francisco, additional, Hengel, Holger, additional, Aljamal, Bayan Mohammed, additional, Nasr, Vahideh, additional, Assarzadegan, Farhad, additional, Ragno, Michele, additional, Trojano, Luigi, additional, Ojeda, Naomi Meave, additional, Çakar, Arman, additional, Bianchi, Silvia, additional, Pescini, Francesca, additional, Poggesi, Anna, additional, Al Tenalji, Amal, additional, Aziz, Majid, additional, Mohammad, Rahema, additional, Chedrawi, Aziza, additional, De Stefano, Nicola, additional, Zifarelli, Giovanni, additional, Schöls, Ludger, additional, Haack, Tobias B., additional, Rebelo, Adriana, additional, Zuchner, Stephan, additional, Koc, Filiz, additional, Griffiths, Lyn, additional, Orozco, Lorena, additional, Helmes, Karla García, additional, Babaei, Meisam, additional, Bauer, Peter, additional, Jeong, Won Chan, additional, Karimiani, Ehsan Ghayoor, additional, Schmidts, Miriam, additional, Gleeson, Joseph G., additional, Chung, Wendy K., additional, Alkuraya, Fowzan S., additional, Shalbafan, Bita, additional, Markus, Hugh Stephen, additional, Houlden, Henry, additional, and Maroofian, Reza, additional

Published
2024
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15. AAV-mediated FOXG1 gene editing in human Rett primary cells

Author

Croci, Susanna, Carriero, Miriam Lucia, Capitani, Katia, Daga, Sergio, Donati, Francesco, Papa, Filomena Tiziana, Frullanti, Elisa, Lopergolo, Diego, Lamacchia, Vittoria, Tita, Rossella, Giliberti, Annarita, Benetti, Elisa, Niccheri, Francesca, Furini, Simone, Lo Rizzo, Caterina, Conticello, Silvestro Giovanni, Renieri, Alessandra, and Meloni, Ilaria

Published
2020
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16. Familial Alzheimer's disease associated with heterozygous NPC1 mutation.

Author

Lopergolo, Diego, Bianchi, Silvia, Gallus, Gian Nicola, Locci, Sara, Pucci, Barbara, Leoni, Valerio, Gasparini, Daniele, Tardelli, Elisa, Chincarini, Andrea, Sestini, Stelvio, Santorelli, Filippo Maria, Zetterberg, Henrik, De Stefano, Nicola, and Mignarri, Andrea

Abstract

Introduction NPC1 mutations are responsible for Niemann-Pick disease type C (NPC), a rare autosomal recessive neurodegenerative disease. Patients harbouring heterozygous NPC1 mutations may rarely show parkinsonism or dementia. Here, we describe for the first time a large family with an apparently autosomal dominant late-onset Alzheimer's disease (AD) harbouring a novel heterozygous NPC1 mutation. Methods All the five living siblings belonging to the family were evaluated. We performed clinical evaluation, neuropsychological tests, assessment of cerebrospinal fluid markers of amyloid deposition, tau pathology and neurodegeneration (ATN), structural neuroimaging and brain amyloid-positron emission tomography. Oxysterol serum levels were also tested. A wide next-generation sequencing panel of genes associated with neurodegenerative diseases and a whole exome sequencing analysis were performed. Results We detected the novel heterozygous c.3034G>T (p.Gly1012Cys) mutation in NPC1, shared by all the siblings. No other point mutations or deletions in NPC1 or NPC2 were found. In four siblings, a diagnosis of late-onset AD was defined according to clinical characterisation and ATN biomarkers (A+, T+, N+) and serum oxysterol analysis showed increased 7-ketocholesterol and cholestane-3ß, 5a,6ß-triol. Discussion We describe a novel NPC1 heterozygous mutation harboured by different members of a family with autosomal dominant late-onset amnesic AD without NPC-associated features. A missense mutation in homozygous state in the same aminoacidic position has been previously reported in a patient with NPC with severe phenotype. The alteration of serum oxysterols in our family corroborates the pathogenic role of our NPC1 mutation. Our work, illustrating clinical and biochemical disease hallmarks associated with NPC1 heterozygosity in patients affected by AD, provides relevant insights into the pathogenetic mechanisms underlying this possible novel association. [ABSTRACT FROM AUTHOR]

Published
2024
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17. CCDC78: unveiling the function of a novel gene associated to hereditary myopathy

Author

Lopergolo, Diego, primary, Gallus, Gian Nicola, additional, Pieraccini, Giuseppe, additional, Boscaro, Francesca, additional, Berti, Gianna, additional, Serni, Giovanni, additional, Volpi, Nila, additional, Formichi, Patrizia, additional, Bianchi, Silvia, additional, Cassandrini, Denise, additional, Sorrentino, Vincenzo, additional, Rossi, Daniela, additional, Santorelli, Filippo Maria, additional, De Stefano, Nicola, additional, and Malandrini, Alessandro, additional

Published
2023
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18. Developmental epileptic encephalopathy in DLG4‐related synaptopathy

Author

Kassabian, Benedetta, primary, Levy, Amanda M., additional, Gardella, Elena, additional, Aledo‐Serrano, Angel, additional, Ananth, Amitha L., additional, Brea‐Fernández, Alejandro J., additional, Caumes, Roseline, additional, Chatron, Nicolas, additional, Dainelli, Alice, additional, De Wachter, Matthias, additional, Denommé‐Pichon, Anne‐Sophie, additional, Dye, Thomas J., additional, Fazzi, Elisa, additional, Felt, Roxanne, additional, Fernández‐Jaén, Alberto, additional, Fernández‐Prieto, Montserrat, additional, Gantz, Emily, additional, Gasperowicz, Piotr, additional, Gil‐Nagel, Antonio, additional, Gómez‐Andrés, David, additional, Greiner, Hansel M., additional, Guerrini, Renzo, additional, Haanpää, Maria K., additional, Helin, Minttu, additional, Hoyer, Juliane, additional, Hurst, Anna C. E., additional, Kallish, Staci, additional, Karkare, Shefali N., additional, Khan, Amjad, additional, Kleinendorst, Lotte, additional, Koch, Johannes, additional, Kothare, Sanjeev V., additional, Koudijs, Suzanna V., additional, Lagae, Lieven, additional, Lakeman, Phillis, additional, Leppig, Kathleen A., additional, Lesca, Gaetan, additional, Lopergolo, Diego, additional, Lusk, Laina, additional, Mackenzie, Alex, additional, Mei, Davide, additional, Møller, Rikke S., additional, Pereira, Elaine M., additional, Platzer, Konrad, additional, Quelin, Chloe, additional, Revah‐Politi, Anya, additional, Rheims, Sylvain, additional, Rodríguez‐Palmero, Agustí, additional, Rossi, Andrea, additional, Santorelli, Filippo, additional, Seinfeld, Syndi, additional, Sell, Erick, additional, Stephenson, Donna, additional, Szczaluba, Krzysztof, additional, Trinka, Eugen, additional, Umair, Muhammad, additional, Van Esch, Hilde, additional, van Haelst, Mieke M., additional, Veenma, Danielle C. M., additional, Weber, Sacha, additional, Weckhuysen, Sarah, additional, Zacher, Pia, additional, Tümer, Zeynep, additional, and Rubboli, Guido, additional

Published
2023
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19. Oculomotor features in SCA27B patients

Author

Lopergolo, Diego, primary, Bargagli, Alessia, additional, Satolli, Sara, additional, Barghigiani, Melissa, additional, Mignarri, Andrea, additional, Musumeci, Olimpia, additional, Maria Santorelli, Filippo, additional, and Rufa, Alessandra, additional

Published
2023
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20. Familial Alzheimer’s disease associated with heterozygousNPC1mutation

Author

Lopergolo, Diego, primary, Bianchi, Silvia, additional, Gallus, Gian Nicola, additional, Locci, Sara, additional, Pucci, Barbara, additional, Leoni, Valerio, additional, Gasparini, Daniele, additional, Tardelli, Elisa, additional, Chincarini, Andrea, additional, Sestini, Stelvio, additional, Santorelli, Filippo Maria, additional, Zetterberg, Henrik, additional, De Stefano, Nicola, additional, and Mignarri, Andrea, additional

Published
2023
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21. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Della Vecchia, Stefania, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Cioffi, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, and Santorelli, Filippo Maria

Published
2022
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22. Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey

Author

Leoncini, Silvia, primary, Boasiako, Lidia, additional, Lopergolo, Diego, additional, Altamura, Maria, additional, Fazzi, Caterina, additional, Canitano, Roberto, additional, Grosso, Salvatore, additional, Meloni, Ilaria, additional, Baldassarri, Margherita, additional, Croci, Susanna, additional, Renieri, Alessandra, additional, Mastrangelo, Mario, additional, and De Felice, Claudio, additional

Published
2023
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24. Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).

Author

Aguti, Sara, Gallus, Gian Nicola, Bianchi, Silvia, Salvatore, Simona, Rubegni, Anna, Berti, Gianna, Formichi, Patrizia, De Stefano, Nicola, Malandrini, Alessandro, and Lopergolo, Diego

Subjects
MUSCULAR dystrophy, MUSCLE weakness, SKIN biopsy, BIOMARKERS, MOLECULAR diagnosis, FACIOSCAPULOHUMERAL muscular dystrophy, BLOOD testing
Abstract

Objective: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD). Background: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK levels and dystrophic findings on muscle biopsy. Heterozygous CAPN3 mutations are associated with autosomal dominant LGMD-4, while biallelic mutations can cause autosomal recessive LGMD-1. Diagnosis is currently often based on invasive methods requiring muscle biopsy or blood tests. In most cases Western blotting (WB) analysis from muscle biopsy is essential for a diagnosis, as muscle samples are currently the only known tissues to express the full-length CAPN3 isoform. Methods: We analyzed CAPN3 in a cohort including 60 LGMD patients. Selected patients underwent a complete neurological examination, electromyography, muscle biopsy, and skin biopsies for primary fibroblasts isolation. The amount of CAPN3 was evaluated by WB analysis in muscle and skin tissues. The total RNA isolated from muscle, fibroblast and urine was processed, and cDNA was used for qualitative analysis. The expression of CAPN3 was investigated by qRT-PCR. The CAPN3 3D structure has been visualized and analyzed using PyMOL. Results: Among our patients, seven different CAPN3 mutations were detected, of which two were novel. After sequencing CAPN3 transcripts from fibroblast and urine, we detected different CAPN3 isoforms surprisingly including the full-length transcript. We found comparable protein levels from fibroblasts and muscle tissue; in particular, patients harboring a novel CAPN3 mutation showed a 30% reduction in protein compared to controls from both tissues. Conclusions: Our findings showed for the first time the presence of the CAPN3 full-length transcript in urine and skin samples. Moreover, we demonstrated surprisingly comparable CAPN3 protein levels between muscle and skin samples, thus allowing us to hypothesize the use of skin biopsy and probably of urine samples as an alternative less invasive method to assess the amount of CAPN3 when molecular diagnosis turns out to be inconclusive. [ABSTRACT FROM AUTHOR]

Published
2024
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26. A human pan-genomic analysis reconfigures the genetic and epigenetic make up of facioscapulohumeral muscular dystrophy

Author

Salsi, Valentina, primary, Chiara, Matteo, additional, Pini, Sara, additional, Kuś, Paweł, additional, Ruggiero, Lucia, additional, Bonanno, Silvia, additional, Rodolico, Carmelo, additional, Previtali, Stefano C., additional, D’Angelo, Maria Grazia, additional, Maggi, Lorenzo, additional, Lopergolo, Diego, additional, Kimmel, Marek, additional, Santorelli, Filippo M., additional, Pesole, Graziano, additional, and Tupler, Rossella G., additional

Published
2023
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27. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Author

Rots, Dmitrijs, primary, Jakub, Taryn E., additional, Keung, Crystal, additional, Jackson, Adam, additional, Banka, Siddharth, additional, Pfundt, Rolph, additional, de Vries, Bert B.A., additional, van Jaarsveld, Richard H., additional, Hopman, Saskia M.J., additional, van Binsbergen, Ellen, additional, Valenzuela, Irene, additional, Hempel, Maja, additional, Bierhals, Tatjana, additional, Kortüm, Fanny, additional, Lecoquierre, Francois, additional, Goldenberg, Alice, additional, Hertz, Jens Michael, additional, Andersen, Charlotte Brasch, additional, Kibæk, Maria, additional, Prijoles, Eloise J., additional, Stevenson, Roger E., additional, Everman, David B., additional, Patterson, Wesley G., additional, Meng, Linyan, additional, Gijavanekar, Charul, additional, De Dios, Karl, additional, Lakhani, Shenela, additional, Levy, Tess, additional, Wagner, Matias, additional, Wieczorek, Dagmar, additional, Benke, Paul J., additional, Lopez Garcia, María Soledad, additional, Perrier, Renee, additional, Sousa, Sergio B., additional, Almeida, Pedro M., additional, Simões, Maria José, additional, Isidor, Bertrand, additional, Deb, Wallid, additional, Schmanski, Andrew A., additional, Abdul-Rahman, Omar, additional, Philippe, Christophe, additional, Bruel, Ange-Line, additional, Faivre, Laurence, additional, Vitobello, Antonio, additional, Thauvin, Christel, additional, Smits, Jeroen J., additional, Garavelli, Livia, additional, Caraffi, Stefano G., additional, Peluso, Francesca, additional, Davis-Keppen, Laura, additional, Platt, Dylan, additional, Royer, Erin, additional, Leeuwen, Lisette, additional, Sinnema, Margje, additional, Stegmann, Alexander P.A., additional, Stumpel, Constance T.R.M., additional, Tiller, George E., additional, Bosch, Daniëlle G.M., additional, Potgieter, Stephanus T., additional, Joss, Shelagh, additional, Splitt, Miranda, additional, Holden, Simon, additional, Prapa, Matina, additional, Foulds, Nicola, additional, Douzgou, Sofia, additional, Puura, Kaija, additional, Waltes, Regina, additional, Chiocchetti, Andreas G., additional, Freitag, Christine M., additional, Satterstrom, F. Kyle, additional, De Rubeis, Silvia, additional, Buxbaum, Joseph, additional, Gelb, Bruce D., additional, Branko, Aleksic, additional, Kushima, Itaru, additional, Howe, Jennifer, additional, Scherer, Stephen W., additional, Arado, Alessia, additional, Baldo, Chiara, additional, Patat, Olivier, additional, Bénédicte, Demeer, additional, Lopergolo, Diego, additional, Santorelli, Filippo M., additional, Haack, Tobias B., additional, Dufke, Andreas, additional, Bertrand, Miriam, additional, Falb, Ruth J., additional, Rieß, Angelika, additional, Krieg, Peter, additional, Spranger, Stephanie, additional, Bedeschi, Maria Francesca, additional, Iascone, Maria, additional, Josephi-Taylor, Sarah, additional, Roscioli, Tony, additional, Buckley, Michael F., additional, Liebelt, Jan, additional, Dagli, Aditi I., additional, Aten, Emmelien, additional, Hurst, Anna C.E., additional, Hicks, Alesha, additional, Suri, Mohnish, additional, Aliu, Ermal, additional, Naik, Sunil, additional, Sidlow, Richard, additional, Coursimault, Juliette, additional, Nicolas, Gaël, additional, Küpper, Hanna, additional, Petit, Florence, additional, Ibrahim, Veyan, additional, Top, Deniz, additional, Di Cara, Francesca, additional, Louie, Raymond J., additional, Stolerman, Elliot, additional, Brunner, Han G., additional, Vissers, Lisenka E.L.M., additional, Kramer, Jamie M., additional, and Kleefstra, Tjitske, additional

Published
2023
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29. Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies

Author

Dosi, Claudia, primary, Rubegni, Anna, additional, Baldacci, Jacopo, additional, Galatolo, Daniele, additional, Doccini, Stefano, additional, Astrea, Guja, additional, Berardinelli, Angela, additional, Bruno, Claudio, additional, Bruno, Giorgia, additional, Comi, Giacomo Pietro, additional, Donati, Maria Alice, additional, Dotti, Maria Teresa, additional, Filosto, Massimiliano, additional, Fiorillo, Chiara, additional, Giannini, Fabio, additional, Gigli, Gian Luigi, additional, Grandis, Marina, additional, Lopergolo, Diego, additional, Magri, Francesca, additional, Maioli, Maria Antonietta, additional, Malandrini, Alessandro, additional, Massa, Roberto, additional, Matà, Sabrina, additional, Melani, Federico, additional, Messina, Sonia, additional, Mignarri, Andrea, additional, Moggio, Maurizio, additional, Pennisi, Elena Maria, additional, Pegoraro, Elena, additional, Ricci, Giulia, additional, Sacchini, Michele, additional, Schenone, Angelo, additional, Sampaolo, Simone, additional, Sciacco, Monica, additional, Siciliano, Gabriele, additional, Tasca, Giorgio, additional, Tonin, Paola, additional, Tupler, Rossella, additional, Valente, Mariarosaria, additional, Volpi, Nila, additional, Cassandrini, Denise, additional, and Santorelli, Filippo Maria, additional

Published
2023
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31. A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing

Author

Marinella, Gemma, primary, Astrea, Guja, additional, Buchignani, Bianca, additional, Cassandrini, Denise, additional, Doccini, Stefano, additional, Filosto, Massimiliano, additional, Galatolo, Daniele, additional, Gallone, Salvatore, additional, Giannini, Fabio, additional, Lopergolo, Diego, additional, Maioli, Maria Antonietta, additional, Magri, Francesca, additional, Malandrini, Alessandro, additional, Mandich, Paola, additional, Mari, Francesco, additional, Massa, Roberto, additional, Mata, Sabrina, additional, Melani, Federico, additional, Moggio, Maurizio, additional, Mongini, Tiziana E., additional, Pasquariello, Rosa, additional, Pegoraro, Elena, additional, Ricci, Federica, additional, Ricci, Giulia, additional, Rodolico, Carmelo, additional, Rubegni, Anna, additional, Siciliano, Gabriele, additional, Sperti, Martina, additional, Ticci, Chiara, additional, Tonin, Paola, additional, Santorelli, Filippo M., additional, and Battini, Roberta, additional

Published
2022
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32. Natural history of KBG syndrome in a large European cohort

Author

Loberti, Lorenzo, primary, Bruno, Lucia Pia, additional, Granata, Stefania, additional, Doddato, Gabriella, additional, Resciniti, Sara, additional, Fava, Francesca, additional, Carullo, Michele, additional, Rahikkala, Elisa, additional, Jouret, Guillaume, additional, Menke, Leonie A, additional, Lederer, Damien, additional, Vrielynck, Pascal, additional, Ryba, Lukáš, additional, Brunetti-Pierri, Nicola, additional, Lasa-Aranzasti, Amaia, additional, Cueto-González, Anna Maria, additional, Trujillano, Laura, additional, Valenzuela, Irene, additional, Tizzano, Eduardo F, additional, Spinelli, Alessandro Mauro, additional, Bruno, Irene, additional, Currò, Aurora, additional, Stanzial, Franco, additional, Benedicenti, Francesco, additional, Lopergolo, Diego, additional, Santorelli, Filippo Maria, additional, Aristidou, Constantia, additional, Tanteles, George A, additional, Maystadt, Isabelle, additional, Tkemaladze, Tinatin, additional, Reimand, Tiia, additional, Lokke, Helen, additional, Õunap, Katrin, additional, Haanpää, Maria K, additional, Holubová, Andrea, additional, Zoubková, Veronika, additional, Schwarz, Martin, additional, Žordania, Riina, additional, Muru, Kai, additional, Roht, Laura, additional, Tihveräinen, Annika, additional, Teek, Rita, additional, Thomson, Ulvi, additional, Atallah, Isis, additional, Superti-Furga, Andrea, additional, Buoni, Sabrina, additional, Canitano, Roberto, additional, Scandurra, Valeria, additional, Rossetti, Annalisa, additional, Grosso, Salvatore, additional, Battini, Roberta, additional, Baldassarri, Margherita, additional, Mencarelli, Maria Antonietta, additional, Rizzo, Caterina Lo, additional, Bruttini, Mirella, additional, Mari, Francesca, additional, Ariani, Francesca, additional, Renieri, Alessandra, additional, and Pinto, Anna Maria, additional

Published
2022
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34. Natural history of KBG syndrome in a large European cohort

Author

Loberti, L, Bruno, L, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A, Trujillano, L, Valenzuela, I, Tizzano, E, Spinelli, A, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F, Aristidou, C, Tanteles, G, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Isis, A, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M, Rizzo, C, Bruttini, M, Mari, F, Ariani, F, Renieri, A, Pinto, A, Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Isis, Atallah, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria, Loberti, L, Bruno, L, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A, Trujillano, L, Valenzuela, I, Tizzano, E, Spinelli, A, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F, Aristidou, C, Tanteles, G, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Isis, A, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M, Rizzo, C, Bruttini, M, Mari, F, Ariani, F, Renieri, A, Pinto, A, Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Isis, Atallah, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, and Pinto, Anna Maria

Abstract

KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of KBGS. In the context of a European collaborative study, we collected the largest cohort of KBGS patients (49). A combined array- based Comparative Genomic Hybridization and next generation sequencing (NGS) approach investigated both genomic Copy Number Variants and SNVs. Intellectual disability (ID) (82%) ranged from mild to moderate with severe ID identified in two patients. Epilepsy was present in 26.5%. Short stature was consistent over time, while occipitofrontal circumference (median value: −0.88 SD at birth) normalized over years. Cerebral anomalies, were identified in 56% of patients and thus represented the second most relevant clinical feature reinforcing clinical suspicion in the paediatric age when short stature and vertebral/dental anomalies are vague. Macrodontia, oligodontia and dental agenesis (53%) were almost as frequent as skeletal anomalies, such as brachydactyly, short fifth finger, fifth finger clinodactyly, pectus excavatum/carinatum, delayed bone age. In 28.5% of individuals, prenatal ultrasound anomalies were reported. Except for three splicing variants, leading to a premature termination, variants were almost all frameshift. Our results, broadening the spectrum of KBGS phenotype progression, provide useful tools to facilitate differential diagnosis and improve clinical management. We suggest to consider a wider range of dental anomalies before excluding diagnosis and to perform a careful odontoiatric/ear-nose-throat (ENT) evaluation in order to look for even submucosal palate cleft given the high percentage of palate abnormalities. NGS approaches, following evidence of antenatal ultrasound anomalies, should include ANKRD11.

Published
2022

38. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Della Vecchia, Stefania, primary, Tessa, Alessandra, additional, Dosi, Claudia, additional, Baldacci, Jacopo, additional, Pasquariello, Rosa, additional, Antenora, Antonella, additional, Astrea, Guja, additional, Bassi, Maria Teresa, additional, Battini, Roberta, additional, Casali, Carlo, additional, Cioffi, Ettore, additional, Conti, Greta, additional, De Michele, Giovanna, additional, Ferrari, Anna Rita, additional, Filla, Alessandro, additional, Fiorillo, Chiara, additional, Fusco, Carlo, additional, Gallone, Salvatore, additional, Germiniasi, Chiara, additional, Guerrini, Renzo, additional, Haggiag, Shalom, additional, Lopergolo, Diego, additional, Martinuzzi, Andrea, additional, Melani, Federico, additional, Mignarri, Andrea, additional, Panzeri, Elena, additional, Pini, Antonella, additional, Pinto, Anna Maria, additional, Pochiero, Francesca, additional, Primiano, Guido, additional, Procopio, Elena, additional, Renieri, Alessandra, additional, Romaniello, Romina, additional, Sancricca, Cristina, additional, Servidei, Serenella, additional, Spagnoli, Carlotta, additional, Ticci, Chiara, additional, Rubegni, Anna, additional, and Santorelli, Filippo Maria, additional

Published
2021
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39. Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Vecchia, Stefania Della, primary, Tessa, Alessandra, additional, Dosi, Claudia, additional, Baldacci, Jacopo, additional, Pasquariello, Rosa, additional, Antenora, Antonella, additional, Astrea, Guja, additional, Bassi, Maria Teresa, additional, Battini, Roberta, additional, Casali, Carlo, additional, Cioffi, Ettore, additional, Conti, Greta, additional, De Michele, Giovanna, additional, Ferrari, Anna Rita, additional, Filla, Alessandro, additional, Fiorillo, Chiara, additional, Fusco, Carlo, additional, Gallone, Salvatore, additional, Germiniasi, Chiara, additional, Guerrini, Renzo, additional, Haggiag, Shalom, additional, Lopergolo, Diego, additional, Martinuzzi, Andrea, additional, Melani, Federico, additional, Mignarri, Andrea, additional, Panzeri, Elena, additional, Pini, Antonella, additional, Pinto, Anna Maria, additional, Pochiero, Francesca, additional, Primiano, Guido, additional, Procopio, Elena, additional, Renieri, Alessandra, additional, Romaniello, Romina, additional, Sancricca, Cristina, additional, Servidei, Serenella, additional, Spagnoli, Carlotta, additional, Ticci, Chiara, additional, Rubegni, Anna, additional, and Santorelli, Filippo Maria, additional

Published
2021
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40. microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.

Author

Barish, Scott, Senturk, Mumine, Schoch, Kelly, Minogue, Amanda L, Lopergolo, Diego, Fallerini, Chiara, Harland, Jake, Seemann, Jacob H, Stong, Nicholas, Kranz, Peter G, Kansagra, Sujay, Mikati, Mohamad A, Jasien, Joan, El-Dairi, Mays, Galluzzi, Paolo, Network, Undiagnosed Diseases, Ariani, Francesca, Renieri, Alessandra, Mari, Francesca, and Wangler, Michael F

Published
2022
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41. Variants in the SK₂ channel gene (KCNN₂) lead to dominant neurodevelopmental movement disorders

Author

Mochel, Fanny, Rastetter, Agnès, Ceulemans, Berten, Platzer, Konrad, Yang, Sandra, Shinde, Deepali N., Helbig, Katherine L., Lopergolo, Diego, Mari, Francesca, Renieri, Alessandra, Benetti, Elisa, Canitano, Roberto, Waisfisz, Quinten, Plomp, Astrid S., Huisman, Sylvia A., Wilson, Golder N., Cathey, Sara S, Louie, Raymond J., Del Gaudio, Daniela, Waggoner, Darrel, Kacker, Shawn, Nugent, Kimberly M., Roeder, Elizabeth R., Bruel, Ange-Line, Thevenon, Julien, Ehmke, Nadja, Abou Jamra, Rami, Weckhuysen, Sarah, Dalle, Carine, and Depienne, Christel

Subjects
Human medicine, Biology
Abstract

KCNN2 encodes the small conductance calcium-activated potassium channel 2 (SK2). Rodent models with spontaneous Kcnn2 mutations show abnormal gait and locomotor activity, tremor and memory deficits, but human disorders related to KCNN2 variants are largely unknown. Using exome sequencing, we identified a de novo KCNN2 frameshift deletion in a patient with learning disabilities, cerebellar ataxia and white matter abnormalities on brain MRI. This discovery prompted us to collect data from nine additional patients with de novo KCNN2 variants (one nonsense, one splice site, six missense variants and one in-frame deletion) and one family with a missense variant inherited from the affected mother. We investigated the functional impact of six selected variants on SK2 channel function using the patch-clamp technique. All variants tested but one, which was reclassified to uncertain significance, led to a loss-of-function of SK2 channels. Patients with KCNN2 variants had motor and language developmental delay, intellectual disability often associated with early-onset movement disorders comprising cerebellar ataxia and/or extrapyramidal symptoms. Altogether, our findings provide evidence that heterozygous variants, likely causing a haploinsufficiency of the KCNN2 gene, lead to novel autosomal dominant neurodevelopmental movement disorders mirroring phenotypes previously described in rodents.

Published
2020

42. IQSEC2disorder: A new disease entity or a Rett spectrum continuum?

Author

Lopergolo, Diego, primary, Privitera, Flavia, additional, Castello, Giuseppe, additional, Lo Rizzo, Caterina, additional, Mencarelli, Maria Antonietta, additional, Pinto, Anna Maria, additional, Ariani, Francesca, additional, Currò, Aurora, additional, Lamacchia, Vittoria, additional, Canitano, Roberto, additional, Vaghi, Elisabetta, additional, Ferrarini, Alessandra, additional, Baltodano, Gerardo Mejia, additional, Lederer, Damien, additional, Van Maldergem, Lionel, additional, Serrano, Mercedes, additional, Pineda, Mercè, additional, Fons‐Estupina, Maria Del Carmen, additional, Van Esch, Hilde, additional, Breckpot, Jeroen, additional, Kumps, Candy, additional, Callewaert, Bert, additional, Mueller, Sabrina, additional, Ramelli, Gian Paolo, additional, Armstrong, Judith, additional, Renieri, Alessandra, additional, and Mari, Francesca, additional

Published
2021
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43. SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

Author

McNeill, Alisdair, primary, Iovino, Emanuela, additional, Mansard, Luke, additional, Vache, Christel, additional, Baux, David, additional, Bedoukian, Emma, additional, Cox, Helen, additional, Dean, John, additional, Goudie, David, additional, Kumar, Ajith, additional, Newbury-Ecob, Ruth, additional, Fallerini, Chiara, additional, Renieri, Alessandra, additional, Lopergolo, Diego, additional, Mari, Francesca, additional, Blanchet, Catherine, additional, Willems, Marjolaine, additional, Roux, Anne-Francoise, additional, Pippucci, Tommaso, additional, and Delpire, Eric, additional

Published
2020
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44. Long-term safety and efficacy of eculizumab in generalized myasthenia gravis

Author

Muppidi, Srikanth, Utsugisawa, Kimiaki, Benatar, Michael, Murai, Hiroyuki, Barohn, Richard J., Illa, Isabel, Jacob, Saiju, Vissing, John, Burns, Ted M., Kissel, John T., Nowak, Richard J., Andersen, Henning, Casasnovas, Carlos, de Bleecker, Jan L., Vu, Tuan H., Mantegazza, Renato, O'Brien, Fanny L., Wang, Jing Jing, Fujita, Kenji P., Howard, James F., Mazia, Claudio Gabriel, Wilken, Miguel, Barroso, Fabio, Saba, Juliet, Rugiero, Marcelo, Bettini, Mariela, Chaves, Marcelo, Vidal, Gonzalo, Garcia, Alejandra Dalila, van den Abeele, Guy, de Koning, Kathy, de Mey, Katrien, Mercelis, Rudy, Mahieu, D. lphine, Wagemaekers, Linda, van Damme, Philip, Depreitere, Annelies, Schotte, Caroline, Smetcoren, Charlotte, Stevens, Olivier, van Daele, Sien, Vandenbussche, Nicolas, Vanhee, Annelies, Verjans, Sarah, Vynckier, Jan, D'Hondt, Ann, Tilkin, Petra, Alves de Siqueira Carvalho, Alzira, Dias Brockhausen, Igor, Feder, David, Ambrosio, Daniel, César, Pamela, Melo, Ana Paula, Martins Ribeiro, Renata, Rocha, Rosana, Bezerra Rosa, Bruno, Veiga, Thabata, da Silva, Luiz Augusto, Santos Engel, Murilo, Gonçalves Geraldo, Jordana, Ananias Morita, Maria da Penha, Nogueira Coelho, Erica, Paiva, Gabriel, Pozo, Marina, Prando, Natalia, Martineli Torres, Debora Dada, Butinhao, Cristiani Fernanda, Duran, Gustavo, Gomes da Silva, Tamires Cristina, Otavio Maia Gonçalves, Luiz, Pazetto, Lucas Eduardo, Fialho, Tomás Augusto Suriane, Renata Cubas Volpe, Luciana, Souza Duca, Luciana, Gheller Friedrich, Maurício André, Guerreiro, Alexandre, Mohr, Henrique, Pereira Martins, Maurer, da Cruz Pacheco, Daiane, Ferreira, Luciana, Macagnan, Ana Paula, Pinto, Graziela, de Cassia Santos, Aline, Souza Bulle Oliveira, Acary, Amaral Andrade, Ana Carolina, Annes, Marcelo, Duarte Silva, Liene, Cavalcante Lino, Valeria, Pinto, Wladimir, Assis, Natália, Carrara, Fernanda, Miranda, Carolina, Souza, Iandra, Fernandes, Patricia, Siddiqi, Zaeem, Phan, Cecile, Narayan, Jeffrey, Blackmore, Derrick, Mallon, Ashley, Roderus, 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Lorenzo, Pasanisi, Maria, Campanella, Angela, Evoli, Amelia, Alboini, Paolo Emilio, D'Amato, Valentina, Iorio, Raffaele, Inghilleri, Maurizio, Frasca, Vittorio, Giacomelli, Elena, Gori, Maria, Lopergolo, Diego, Onesti, Emanuela, Gabriele, Maria, Uzawa, Akiyuki, Kanai, Tetsuya, Kawaguchi, Naoki, Mori, Masahiro, Kaneko, Yoko, Kanzaki, Akiko, Kobayashi, Eri, Masaki, Katsuhisa, Matsuse, Dai, Matsushita, Takuya, Uehara, Taira, Shimpo, Misa, Jingu, Maki, Kikutake, Keiko, Nakamura, Yumiko, Sano, Yoshiko, Nagane, Yuriko, Kamegamori, Ikuko, Tsuda, Tomoko, Fujii, Yuko, Futono, Kazumi, Ozawa, Yukiko, Mizugami, Aya, Saito, Yuka, Suzuki, Hidekazu, Morikawa, Miyuki, Samukawa, Makoto, Kamakura, Sachiko, Miyawaki, Eriko, Shiraishi, Hirokazu, Mitazaki, Teiichiro, Motomura, Masakatsu, Mukaino, Akihiro, Yoshimura, Shunsuke, Asada, Shizuka, Yoshida, Seiko, Amamoto, Shoko, Kobashikawa, Tomomi, Koga, Megumi, Maeda, Yasuko, Takada, Kazumi, Takada, Mihoko, Tsurumaru, Masako, Yamashita, Yumi, Suzuki, Yasushi, 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Subjects
0301 basic medicine, Male, Pediatrics, Exacerbation, Physiology, Heart Diseases/chemically induced, Myasthenia Gravis/drug therapy, 030105 genetics & heredity, THERAPY, DOUBLE-BLIND, 0302 clinical medicine, Quality of life, Monoclonal, Activities of Daily Living, Medicine and Health Sciences, Functional ability, Longitudinal Studies, Humanized, Angioedema/chemically induced, MG-ADL, QMG, Eculizumab, Middle Aged, myasthenia gravi, 3. Good health, Treatment Outcome, Antibodies, Monoclonal, Humanized/therapeutic use, Meningococcal Infections/epidemiology, Disease Progression, Female, eculizumab, Life Sciences & Biomedicine, COMPLEMENT INHIBITOR ECULIZUMAB, medicine.drug, Adult, medicine.medical_specialty, MG-QOL15, Heart Diseases, Clinical Neurology, Meningococcal Vaccines, Antibodies, Monoclonal, Humanized, Placebo, Antibodies, ACETYLCHOLINE-RECEPTOR, Complement Inactivating Agents/therapeutic use, 03 medical and health sciences, Cellular and Molecular Neuroscience, Refractory, Physiology (medical), Injection Site Reaction/epidemiology, Myasthenia Gravis, medicine, Aspergillosis, Aspergillosis/epidemiology, Humans, Muscle Strength, Angioedema, myasthenia gravis, Science & Technology, business.industry, MGC, Neurosciences, Meningococcal Vaccines/therapeutic use, medicine.disease, Interim analysis, Complement Inactivating Agents, Injection Site Reaction, Meningococcal Infections, Quality of Life, Myasthenia gravis, ANTIBODY, Neurosciences & Neurology, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

INTRODUCTION: Eculizumab is effective and well tolerated in patients with antiacetylcholine receptor antibody-positive refractory generalized myasthenia gravis (gMG; REGAIN; NCT01997229). We report an interim analysis of an open-label extension of REGAIN, evaluating eculizumab's long-term safety and efficacy. METHODS: Eculizumab (1,200 mg every 2 weeks for 22.7 months [median]) was administered to 117 patients. RESULTS: The safety profile of eculizumab was consistent with REGAIN; no cases of meningococcal infection were reported during the interim analysis period. Myasthenia gravis exacerbation rate was reduced by 75% from the year before REGAIN (P

Published
2019
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45. FOXG1variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development

Author

Mazel, Benoit, Delanne, Julian, Garde, Aurore, Racine, Caroline, Bruel, Ange‐Line, Duffourd, Yannis, Lopergolo, Diego, Santorelli, Filippo Maria, Marchi, Viviana, Pinto, Anna Maria, Mencarelli, Maria Antonietta, Canitano, Roberto, Valentino, Floriana, Papa, Filomena Tiziana, Fallerini, Chiara, Mari, Francesca, Renieri, Alessandra, Munnich, Arnold, Niclass, Tanguy, Le Guyader, Gwenaël, Thauvin‐Robinet, Christel, Philippe, Christophe, and Faivre, Laurence

Abstract

Since 2008, FOXG1haploinsufficiency has been linked to a severe neurodevelopmental phenotype resembling Rett syndrome but with earlier onset. Most patients are unable to sit, walk, or speak. For years, FOXG1sequencing was only prescribed in such severe cases, limiting insight into the full clinical spectrum associated with this gene. Next‐generation sequencing (NGS) now enables unbiased diagnostics. Through the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders, we gathered data from patients with heterozygous FOXG1variants presenting a mild phenotype, defined as able to speak and walk independently. We also reviewed data from three previously reported patients meeting our criteria. We identified five new patients with pathogenic FOXG1missense variants, primarily in the forkhead domain, showing varying nonspecific intellectual disability and developmental delay. These features are not typical of congenital Rett syndrome and were rarely associated with microcephaly and epilepsy. Our findings are consistent with a previous genotype–phenotype analysis by Mitter et al. suggesting the delineation of five different FOXG1genotype groups. Milder phenotypes were associated with missense variants in the forkhead domain. This information may facilitate prognostic assessments in children carrying a FOXG1variant and improve the interpretation of new variants identified with genomic sequencing.

Published
2024
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46. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Author

Satterstrom, F. Kyle, primary, Kosmicki, Jack A., additional, Wang, Jiebiao, additional, Breen, Michael S, additional, De Rubeis, Silvia, additional, An, Joon-Yong, additional, Peng, Minshi, additional, Collins, Ryan L., additional, Grove, Jakob, additional, Klei, Lambertus, additional, Stevens, Christine, additional, Reichert, Jennifer, additional, Mulhern, Maureen S., additional, Artomov, Mykyta, additional, Gerges, Sherif, additional, Sheppard, Brooke, additional, Xu, Xinyi, additional, Bhaduri, Aparna, additional, Norman, Utku, additional, Brand, Harrison, additional, Schwartz, Grace, additional, Nguyen, Rachel, additional, Guerrero, Elizabeth E., additional, Dias, Caroline, additional, Aleksic, Branko, additional, Barbosa, Mafalda, additional, Bishop, Somer, additional, Brusco, Alfredo, additional, Bybjerg-Grauholm, Jonas, additional, Carracedo, Angel, additional, Chan, Marcus C. Y., additional, Chiocchetti, Andreas G., additional, Chung, Brian H. Y., additional, Coon, Hilary, additional, Cuccaro, Michael L., additional, Currò, Aurora, additional, Bernardina, Bernardo Dalla, additional, Doan, Ryan, additional, Domenici, Enrico, additional, Fallerini, Chiara, additional, Fernández-Prieto, Montserrat, additional, Ferrero, Giovanni Battista, additional, Freitag, Christine M., additional, Fromer, Menachem, additional, Gargus, J. Jay, additional, Giorgio, Elisa, additional, González-Peñas, Javier, additional, Guter, Stephen, additional, Halpern, Danielle, additional, Hansen-Kiss, Emily, additional, He, Xin, additional, Herman, Gail E., additional, Hertz-Picciotto, Irva, additional, Hougaard, David M., additional, Hultman, Christina M., additional, Ionita-Laza, Iuliana, additional, Jacob, Suma, additional, Jamison, Jesslyn, additional, Jugessur, Astanand, additional, Kaartinen, Miia, additional, Knudsen, Gun Peggy, additional, Kolevzon, Alexander, additional, Kushima, Itaru, additional, Lee, So Lun, additional, Lehtimäki, Terho, additional, Lim, Elaine T., additional, Lintas, Carla, additional, Lipkin, W. Ian, additional, Lopergolo, Diego, additional, Lopes, Fátima, additional, Ludena, Yunin, additional, Maciel, Patricia, additional, Magnus, Per, additional, Mahjani, Behrang, additional, Maltman, Nell, additional, Manoach, Dara S., additional, Meiri, Gal, additional, Menashe, Idan, additional, Miller, Judith, additional, Minshew, Nancy, additional, de Souza, Eduarda Montenegro M., additional, Moreira, Danielle, additional, Morrow, Eric M., additional, Mors, Ole, additional, Mortensen, Preben Bo, additional, Mosconi, Matthew, additional, Muglia, Pierandrea, additional, Neale, Benjamin M., additional, Nordentoft, Merete, additional, Ozaki, Norio, additional, Palotie, Aarno, additional, Parellada, Mara, additional, Passos-Bueno, Maria Rita, additional, Pericak-Vance, Margaret, additional, Persico, Antonio, additional, Pessah, Isaac, additional, Puura, Kaija, additional, Reichenberg, Abraham, additional, Renieri, Alessandra, additional, Riber, Evelise, additional, Robinson, Elise B., additional, Samocha, Kaitlin E., additional, Sandin, Sven, additional, Santangelo, Susan L., additional, Schellenberg, Gerry, additional, Scherer, Stephen W., additional, Schlitt, Sabine, additional, Schmidt, Rebecca, additional, Schmitt, Lauren, additional, Silva, Isabela Maya W., additional, Singh, Tarjinder, additional, Siper, Paige M., additional, Smith, Moyra, additional, Soares, Gabriela, additional, Stoltenberg, Camilla, additional, Suren, Pål, additional, Susser, Ezra, additional, Sweeney, John, additional, Szatmari, Peter, additional, Tassone, Flora, additional, Teufel, Karoline, additional, Trabetti, Elisabetta, additional, del Pilar Trelles, Maria, additional, Walsh, Christopher, additional, Tang, Lara, additional, Weiss, Lauren A., additional, Werge, Thomas, additional, Werling, Donna, additional, Wigdor, Emilie M., additional, Wilkinson, Emma, additional, Willsey, A. Jeremy, additional, Yu, Tim, additional, H.C. Yu, Mullin, additional, Yuen, Ryan, additional, Zachi, Elaine, additional, Group, iPSYCH Consortium, additional, Betancur, Catalina, additional, Cook, Edwin H., additional, Gallagher, Louise, additional, Gill, Michael, additional, Sutcliffe, James S., additional, Thurm, Audrey, additional, Zwick, Michael E., additional, Børglum, Anders D., additional, State, Matthew W., additional, Cicek, A. Ercument, additional, Talkowski, Michael E., additional, Cutler, David J., additional, Devlin, Bernie, additional, Sanders, Stephan J., additional, Roeder, Kathryn, additional, Daly, Mark J., additional, and Buxbaum, Joseph, additional

Published
2019
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47. Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes.

Author

Doddato, Gabriella, Valentino, Floriana, Giliberti, Annarita, Papa, Filomena Tiziana, Tita, Rossella, Bruno, Lucia Pia, Resciniti, Sara, Fallerini, Chiara, Benetti, Elisa, Palmieri, Maria, Mencarelli, Maria Antonietta, Fabbiani, Alessandra, Bruttini, Mirella, Orrico, Alfredo, Baldassarri, Margherita, Fava, Francesca, Lopergolo, Diego, Lo Rizzo, Caterina, Lamacchia, Vittoria, and Mannucci, Sara

Subjects
CANCER genes, CANCER susceptibility, GENETIC testing, OVARIAN cancer, BREAST cancer
Abstract

Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a condition in which the risk of breast and ovarian cancer is higher than in the general population. The prevalent pathogenesis is attributable to inactivating variants of the BRCA1-2 highly penetrant genes, however, other cancer susceptibility genes may also be involved. By Whole Exome Sequencing (WES) we analyzed a series of 200 individuals selected for genetic testing in BRCA1-2 genes according to the updated National Comprehensive Cancer Network (NCCN) guidelines. Analysis by MLPA was performed to detect large BRCA1-2 deletions/duplications. Focusing on BRCA1-2 genes, data analysis identified 11 cases with pathogenic variants (4 in BRCA1 and 7 in BRCA1-2) and 12 with uncertain variants (7 in BRCA1 and 5 in BRCA2). Only one case was found with a large BRCA1 deletion. Whole exome analysis allowed to characterize pathogenic variants in 21 additional genes: 10 genes more traditionally associated to breast and ovarian cancer (ATM , BRIP1 , CDH1 , PALB2 , PTEN , RAD51C , and TP53) (5% diagnostic yield) and 11 in candidate cancer susceptibility genes (DPYD , ERBB3 , ERCC2 , MUTYH , NQO2 , NTHL1 , PARK2 , RAD54L , and RNASEL). In conclusion, this study allowed a personalized risk assessment and clinical surveillance in an increased number of HBOC families and to broaden the spectrum of causative variants also to candidate "non-canonical" genes. [ABSTRACT FROM AUTHOR]

Published
2021
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48. IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

Author

Lopergolo, Diego, Privitera, Flavia, Castello, Giuseppe, Lo Rizzo, Caterina, Mencarelli, Maria Antonietta, Pinto, Anna Maria, Ariani, Francesca, Currò, Aurora, Lamacchia, Vittoria, Canitano, Roberto, Vaghi, Elisabetta, Ferrarini, Alessandra, Baltodano, Gerardo Mejia, Lederer, Damien, Van Maldergem, Lionel, Serrano, Mercedes, Pineda, Mercè, Fons‐Estupina, Maria Del Carmen, Van Esch, Hilde, and Breckpot, Jeroen

Subjects
*RETT syndrome, *INTELLECTUAL disabilities, *GENDER, *SYMPTOMS, *PHENOTYPES
Abstract

IQSEC2 mutations are associated with IQSEC2‐related intellectual disability (ID). Phenotypic spectrum has been better defined in the last few years by the increasing number of reported cases although the genotype–phenotype relationship for IQSEC2 remains overall complex. As for IQSEC2‐related ID a wide phenotypic diversity has been described in Rett syndrome (RTT). Several patients harboring IQSEC2 mutations present with clinical symptoms similar to RTT and some cases meet most of the criteria for classic RTT. With the aim of establishing a genotype–phenotype correlation, we collected data of 16 patients harboring IQSEC2 point mutations (15 of them previously unreported) and of five novel patients carrying CNVs encompassing IQSEC2. Most of our patients surprisingly shared a moderate‐to‐mild phenotype. The similarities in the clinical course between our mild cases and patients with milder forms of atypical RTT reinforce the hypothesis that also IQSEC2 mutated patients may lay under the wide clinical spectrum of RTT and thus IQSEC2 should be considered in the differential diagnosis. Our data confirm that position, type of variant and gender are crucial for IQSEC2‐associated phenotype delineation. [ABSTRACT FROM AUTHOR]

Published
2021
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49. Low‐level TP 53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia

Author

Pinto, Anna Maria, primary, Papa, Filomena T., additional, Frullanti, Elisa, additional, Meloni, Ilaria, additional, Tita, Rossella, additional, Caselli, Rossella, additional, Fallerini, Chiara, additional, Lopergolo, Diego, additional, Cetta, Francesco, additional, Mencarelli, Maria Antonietta, additional, Bocchia, Monica, additional, Gozzetti, Alessandro, additional, and Renieri, Alessandra, additional

Published
2018
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50. Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study

Author

Howard, James F, Utsugisawa, Kimiaki, Benatar, Michael, Murai, Hiroyuki, Barohn, Richard J, Illa, Isabel, Jacob, Saiju, Vissing, John, Burns, Ted M, Kissel, John T, Muppidi, Srikanth, Nowak, Richard J, O'Brien, Fanny, Wang, Jing-Jing, Mantegazza, Renato, Mazia, Claudio Gabriel, Wilken, Miguel, Ortea, Carolina, Saba, Juliet, Rugiero, Marcelo, Bettini, Mariela, Vidal, Gonzalo, Garcia, Alejandra Dalila, Lamont, Phillipa, Leong, Wai-Kuen, Boterhoven, Heidi, Fyfe, Beverly, Roberts, Leslie, Jasinarachchi, Mahi, Willlems, Natasha, Wanschitz, Julia, Löscher, Wolfgang, De Bleecker, Jan, Van den Abeele, Guy, de Koning, Kathy, De Mey, Katrien, Mercelis, Rudy, Wagemaekers, Linda, Mahieu, Delphine, Van Damme, Philip, Smetcoren, Charlotte, Stevens, Olivier, Verjans, Sarah, D'Hondt, Ann, Tilkin, Petra, Alves de Siqueira Carvalho, Alzira, Hasan, Rosa, Dias Brockhausen, Igor, Feder, David, Ambrosio, Daniel, Melo, Ana Paula, Rocha, Rosana, Rosa, Bruno, Veiga, Thabata, Augusto da Silva, Luiz, Gonçalves Geraldo, Jordana, da Penha Morita Ananias, Maria, Nogueira Coelho, Erica, Paiva, Gabriel, Pozo, Marina, Prando, Natalia, Dada Martineli Torres, Debora, Fernanda Butinhao, Cristiani, Coelho, Erica, Renata Cubas Volpe, Luciana, Duran, Gustavo, Gomes da Silva, Tamires Cristina, Otavio Maia Gonçalves, Luiz, Pazetto, Lucas Eduardo, Souza Duca, Luciana, Suriane Fialho, Tomás Augusto, Gheller Friedrich, Maurício André, Guerreiro, Alexandre, Mohr, Henrique, Pereira Martins, Maurer, da Cruz Pacheco, Daiane, Macagnan, Ana Paula, de Cassia Santos, Aline, Bulle Oliveira, Acary Souza, Amaral de Andrade, Ana Carolina, Annes, Marcelo, Cavalcante Lino, Valeria, Pinto, Wladimir, Miranda, Carolina, Carrara, Fernanda, Souza, Iandra, Genge, Angela, Massie, Rami, Campbell, Natasha, Bril, Vera, Katzberg, Han, Soltani, Mehran, Ng, Eduardo, Siddiqi, Zaeem, Phan, Celile, Blackmore, Derrick, Vohanka, Stanislav, Bednarik, Josef, Chmelikova, Magda, Cierny, Marek, Toncrova, Stanislava, Junkerova, Jana, Kurkova, Barbora, Reguliova, Katarina, Zapletalova, Olga, Pitha, Jiri, Novakova, Iveta, Tyblova, Michaela, Wolfova, Marcela, Jurajdova, Ivana, Andersen, Henning, Harbo, Thoma, Vinge, Lotte, Mogensen, Anita, Højgaard, Joan, Witting, Nanna, Autzen, Anne Mette, Pedersen, Jane, Färkkilä, Marku, Atula, Sari, Nyrhinen, Anne, Erälinna, Juha-Pekka, Laaksonen, Mikko, Oksaranta, Olli, Eriksson, Jaana, Harrison, Tuula, Desnuelle, Claude, Sacconi, Sabrina, Soriani, Marie-Hélène, Decressac, Sonia, Moutarde, Julie, Lahaut, Pauline, Solé, Guilhem, Le Masson, Gwendal, Wielanek-Bachelet, Anne-Cécile, Gaboreau, Morgane, Moreau, Caroline, Wilson, Amy, Vial, Christophe, Bouhour, Françoise, Gervais-Bernard, Helene, Merle, Hélène, Hourquin, Caroline, Lacour, Arnaud, Outteryck, Olivier, Vermersch, Patrick, Zephir, Hélène, Millois, Edouard, Deneve, Michel, Deruelle, Fabienne, Schoser, Benedikt, Wenninger, Stephan, Stangel, Martin, Alvermann, Sascha, Gingele, Stefan, Skripuletz, Thoma, Suehs, Kurt-Wolfram, Trebst, Corinna, Fricke, Karin, Papagiannopoulos, Sotirio, Bostantzopoulou, Sevasti, Vlaikidis, Nichola, Zampaki, Martha, Papadopoulou, Nikoletta, Mitsikostas, Dimos-Dimitrio, Kasioti, Eleni, Mitropoulou, Efstathia, Charalambous, Despoina, Rozsa, Csilla, Horvath, Melinda, Lovas, Gabor, Matolcsi, Judit, Szabo, Gyorgyi, Szabadosne, Brigitta, Vecsei, Laszlo, Dezsi, Livia, Varga, Edina, Konyane, Monika, Gross, Bella, Azrilin, Olga, Greenbereg, Nelly, Bali Kuperman, Hila, Antonini, Giovanni, Garibaldi, Matteo, Morino, Stefania, Troili, Fernanda, Di Pasquale, Antonella, Filla, Alessandro, Costabile, Teresa, Marano, Enrico, Sacca, Francesco, Marsil, Angela, Puorro, Giorgia, Maestri Tassoni, Michelangelo, De Rosa, Anna, Bonanno, Silvia, Antozzi, Carlo, Maggi, Lorenzo, Campanella, Angela, Angelini, Corrado, Cudia, Paola, Pegoraro, Valentina, Pinzan, Elena, Bevilacqua, Francesca, Orrico, Daniele, Bonifati, Domenico Marco, Evoli Stampanoni-B, Amelia, Alboini, Paolo Emilio, D'Amato, Valentina, Iorio, Raffaele, Inghilleri, Maurizio, Fionda, Laura, Frasca, Vittorio, Giacomelli, Elena, Gori, Maria, Lopergolo, Diego, Onesti, Emanuela, Gabriele, Maria, Patti, Francesco, Salvatore Caramma, Andrea, Messina, Silvia, Reggio, Ester, Caserta, Cinzia, Uzawa, Akiyuki, Kanai, Tetsuya, Mori, Masahiro, Kaneko, Yoko, Kanzaki, Akiko, Kobayashi, Eri, Masaki, Katsuhisa, Matsuse, Dai, Matsushita, Takuya, Uehara, Taira, Shimpo, Misa, Jingu, Maki, Kikutake, Keiko, Nakamura, Yumiko, Sano, Yoshiko, Nagane, Yuriko, Kamegamori, Ikuko, Fujii, Yuko, Futono, Kazumi, Tsuda, Tomoko, Saito, Yuka, Suzuki, Hidekazu, Morikawa, Miyuki, Samukawa, Makoto, Kamakura, Sachiko, Shiraishi, Hirokazu, Mitazaki, Teiichiro, Motomura, Masakatsu, Mukaino, Akihiro, Yoshimura, Shunsuke, Asada, Shizuka, Kobashikawa, Tomomi, Koga, Megumi, Maeda, Yasuko, Takada, Kazumi, Takada, Mihoko Takada, Yamashita, Yumi, Yoshida, Seiko, Suzuki, Yasushi, Akiyama, Tetsuya, Narikawa, Koichi, Tsukita, Kenichi, Meguro, Fumie, Fukuda, Yusuke, Sato, Miwako, Matsuo, Hidenori, Fukudome, Takayasu, Gondo, Yuichiro, Maeda, Yasuhiro, Nagaishi, Akiko, Nakane, Shunya, Okubo, Yoshinori, Okumura, Meinoshin, Funaka, Soichiro, Kawamura, Tomohiro, Makamori, Masayuki, Takahashi, Masanori, Hasuike, Tomoya, Higuchi, Eriko, Kobayashi, Hisako, Osakada, Kaori, Taichi, Namie, Tsuda, Emiko, Hayashi, Takashi, Hisahara, Shin, Imai, Tomihiro, Kawamata, Jun, Murahara, Takashi, Saitoh, Masaki, Shimohama, Shun, Suzuki, Shuichiro, Yamamoto, Daisuke, Konno, Shingo, Imamura, Tomomi, Inoue, Masashi, Murata, Mayumi, Nakazora, Hiroshi, Nakayama, Ritsu, Ikeda, Yasuko, Ogawa, Miki, Shirane, Maoko, Kanda, Takashi, Kawai, Motoharu, Koga, Michiaki, Ogasawara, Junichi, Omoto, Masatoshi, Sano, Yasuteru, Arima, Hideki, Fukui, Sachie, Shimose, Shigemi, Shinozaki, Hirokazu, Watanabe, Masanori, Yoshikawa, Chieko, van der Kooi, Anneke, de Visser, Marianne, Gibson, Tamar, Maessen, Jo, de Baets, Marc, Faber, Catherine, Keijzers, Maria Johanna, Miesen, Monique, Kostera-Pruszczyk, Anna, Kaminska, Anna, Kim, Byung-Jo, Lee, Chang Nyoung, Koo, Yong Seo, Seok, Hung Youl, Kang, Hoo Nam, Ra, Hyejin, Kim, Byoung Joon, Cho, Eun Bin, Lee, Hyelim, Min, Ju-Hong, Seok, Jinmyoung, Koh, Da Yoon, Kwon, Juyoung, Lee, Jieun, Park, Sangae, Hong, Yoon-Ho, Lim, Jae-Sung, Kim, Miri, Kim, Seung Min, Kim, Yool-hee, Lee, Hyung Seok, Shin, Ha Young, Hwang, Eun Bi, Shin, Miju, Sazonov, Deni, Yarmoschuk, Asya, Babenko, Larisa, Malkova, Nadezhda, Melnikova, Anna, Korobko, Deni, Kosykh, Evgeniya, Pokhabov, Dmitry, Nesterova, Yulia, Abramov, Vladislav, Balyazin, Victor, Casasnovas Pons, Carlo, Alberti Aguilo, Maria, Homedes-Pedret, Christian, Palacios, Natalia Julia, Lazaro, Ana, Diez Tejedor, Exuperio, Fernandez-Fournier, Mireya, Lopez Ruiz, Pedro, Rodriguez de Rivera, Francisco Javier, Salvado Figueras, Maria, Gamez, Josep, Salvado, Maria, Cortes Vicente, Elena, Diaz-Manera, Jordi, Querol Gutierrez, Lui, Rojas Garcia, Ricardo, Vidal, Nuria, Arribas-Ibar, Elisabet, Piehl, Fredrik, Hietala, Albert, Bjarbo, Lena, Lindberg, Christopher, Jons, Daniel, Andersson, Blanka, Sengun, Ihsan, Ozcelik, Pinar, Tuga, Celal, Ugur, Muzeyyen, Boz, Cavit, Altiparmak, Didem, Gazioglu, Sibel, Ozen Aydin, Cigdem, Erdem-Ozdamar, Sevim, Bekircan-Kurt, Can Ebru, Yilmaz, Ezgi, Acar, Nazire Pinar, Caliskan, Yagmur, Efendi, Husnu, Aydinlik, Seda, Cavus, Hakan, Semiz, Cansu, Tun, Ozlem, Terzi, Murat, Dogan, Baki, Onar, Musa Kazim, Sen, Sedat, Cavdar, Tugce Kirba, Norwood, Fiona, Dimitriou, Aikaterini, Gollogly, Jakit, Mahdi-Rogers, Mohamed, Seddigh, Arshira, Maier, Gal, Sohail, Faisal, Sathasivam, Sivakumar, Arndt, Heike, Davies, Debbie, Watling, Dave, Rivner, Michael, Hartmann, J. Edward, Quarles, Brandy, Smalley, Nicole, Amato, Anthony, Cochrane, Thoma, Salajegheh, Mohammed, Roe, Kristen, Amato, Katherine, Toska, Shirli, Wolfe, Gil, Silvestri, Nichola, Patrick, Kara, Zakalik, Karen, Katz, Jonathan, Miller, Robert, Engel, Marguerite, Bravver, Elena, Brooks, Benjamin, Plevka, Sarah, Burdette, Maryanne, Sanjak, Mohammad, Kramer, Megan, Nemeth, Joanne, Schommer, Clara, Juel, Vern, Guptill, Jeffrey, Hobson-Webb, Lisa, Beck, Kate, Carnes, Donna, Loor, John, Anderson, Amanda, Lange, Dale, Agopian, Eliz, Goldstein, Jonathan, Manning, Erin, Kaplan, Lindsay, Holzberg, Shara, Kassebaum, Nicole, Pascuzzi, Robert, Bodkin, Cynthia, Kincaid, John, Snook, Riley, Guinrich, Sandra, Micheels, Angela, Chaudhry, Vinay, Corse, Andrea, Mosmiller, Betsy, Ho, Doreen, Srinivasan, Jayashri, Vytopil, Michael, Ventura, Nichola, Scala, Stephanie, Carter, Cynthia, Donahue, Craig, Herbert, Carol, Weiner, Elaine, Mckinnon, Jonathan, Haar, Laura, Mckinnon, Naya, Alcon, Karan, Daniels, Kevin, Sattar, Nadia, Jeffery, Denni, Mckenna, Kaitlyn, Guidon, Amanda, David, William, Dheel, Christina, Levine-Weinberg, Mark, Nigro, Catherine, Simpson, Ericka, Appel, Stanley H, Lai, Eugene, Lay, Lui, Pleitez, Milvia, Halton, Sharon, Faigle, Casey, Thompson, Lisa, Sivak, Mark, Shin, Susan, Bratton, Joan, Jacobs, Daniel, Brown, Gavin, Bandukwala, Ibrez, Brown, Morri, Kane, Jennifer, Blount, Ira, Freimer, Miriam, Hoyle, J. Chad, Agriesti, Julie, Khoury, Julie, Marburger, Tessa, Kaur, Harpreet, Dimitrova, Diana, Mellion, Michelle, Sachs, George, Crabtree, Brigid, Keo, Roseann, Perez, Ele Kim, Taber, Sandra, Gilchrist, Jame, Andoin, Angela, Darnell, Taylor, Goyal, Neelam, Sakamuri, Sarada, So, Yuen T, Welsh, Lesly Welsh, Bhavaraju-Sanka, Ratna, Tobon Gonzalez, Alejandro, Jones, Floyd, Saklad, Amy, Nations, Sharon, Trivedi, Jaya, Hopkins, Steve, Kazamel, Mohamed, Alsharabati, Mohammad, Lu, Liang, Mumfrey-Thomas, Sandi, Woodall, Amy, Richman, David, Butters, Janelle, Lindsay, Molly, Mozaffar, Tahseen, Cash, Tiyonnoh, Goyal, Namita, Roy, Gulmohor, Mathew, Veena, Maqsood, Fatima, Minton, Brian, Jones, H. Jame, Rosenfeld, Jeffrey, Garcia, Rebekah, Garcia, Sonia, Echevarria, Laura, Pulley, Michael, Aranke, Shachie, Berger, Alan Ro, Shah, Jaimin, Shabbir, Yasmeen, Smith, Lisa, Varghese, Mary, Gutmann, Laurie, Gutmann, Ludwig, Swenson, Andrea, Olalde, Heena, Hafer-Macko, Charlene, Kwan, Justin, Zilliox, Lindsay, Callison, Karen, Disanzo, Beth, Naunton, Kerry, Bilsker, Martin, Sharma, Khema, Reyes, Eliana, Cooley, Anne, Michon, Sara-Claude, Steele, Julie, Karam, Chafic Karam, Chopra, Manisha, Bird, Shawn, Kaufman, Jacob, Gallatti, Nichole, Vu, Tuan, Katzin, Lara, Mcclain, Terry, Harvey, Brittany, Hart, Adam, Huynh, Kristin, Beydoun, Said, Chilingaryan, Amaiak, Droker, Brian, Lin, Frank, Shah, Akshay, Tran, Anh, Akhter, Salma, Malekniazi, Ali, Tandan, Rup, Hehir, Michael, Waheed, Waqar, Lucy, Shannon, Weiss, Michael, Distad, Jane, Downing, Sharon, Strom, Susan, Lisak, Robert, Bernitsas, Evanthia, Khan, Omar, Kumar Sriwastava, Shitiz, Tselis, Alexandro, Jia, Kelly, Bertorini, Tulio, Arnold, Thoma, Henderson, Kendrick, Pillai, Rekha, Liu, Ye, Wheeler, Lauren, Hewlett, Jasmine, Vanderhook, Mollie, Dicapua, Daniel, Keung, Benison, Kumar, Aditya, Patwa, Huned, Robeson, Kimberly, Nye, Joan, Vu, Hong, Evoli, Amelia (ORCID:0000-0003-0282-8787), Howard, James F, Utsugisawa, Kimiaki, Benatar, Michael, Murai, Hiroyuki, Barohn, Richard J, Illa, Isabel, Jacob, Saiju, Vissing, John, Burns, Ted M, Kissel, John T, Muppidi, Srikanth, Nowak, Richard J, O'Brien, Fanny, Wang, Jing-Jing, Mantegazza, Renato, Mazia, Claudio Gabriel, Wilken, Miguel, Ortea, Carolina, Saba, Juliet, Rugiero, Marcelo, Bettini, Mariela, Vidal, Gonzalo, Garcia, Alejandra Dalila, Lamont, Phillipa, Leong, Wai-Kuen, Boterhoven, Heidi, Fyfe, Beverly, Roberts, Leslie, Jasinarachchi, Mahi, Willlems, Natasha, Wanschitz, Julia, Löscher, Wolfgang, De Bleecker, Jan, Van den Abeele, Guy, de Koning, Kathy, De Mey, Katrien, Mercelis, Rudy, Wagemaekers, Linda, Mahieu, Delphine, Van Damme, Philip, Smetcoren, Charlotte, Stevens, Olivier, Verjans, Sarah, D'Hondt, Ann, Tilkin, Petra, Alves de Siqueira Carvalho, Alzira, Hasan, Rosa, Dias Brockhausen, Igor, Feder, David, Ambrosio, Daniel, Melo, Ana Paula, Rocha, Rosana, Rosa, Bruno, Veiga, Thabata, Augusto da Silva, Luiz, Gonçalves Geraldo, Jordana, da Penha Morita Ananias, Maria, Nogueira Coelho, Erica, Paiva, Gabriel, Pozo, Marina, Prando, Natalia, Dada Martineli Torres, Debora, Fernanda Butinhao, Cristiani, Coelho, Erica, Renata Cubas Volpe, Luciana, Duran, Gustavo, Gomes da Silva, Tamires Cristina, Otavio Maia Gonçalves, Luiz, Pazetto, Lucas Eduardo, Souza Duca, Luciana, Suriane Fialho, Tomás Augusto, Gheller Friedrich, Maurício André, Guerreiro, Alexandre, Mohr, Henrique, Pereira Martins, Maurer, da Cruz Pacheco, Daiane, Macagnan, Ana Paula, de Cassia Santos, Aline, Bulle Oliveira, Acary Souza, Amaral de Andrade, Ana Carolina, Annes, Marcelo, Cavalcante Lino, Valeria, Pinto, Wladimir, Miranda, Carolina, Carrara, Fernanda, Souza, Iandra, Genge, Angela, Massie, Rami, Campbell, Natasha, Bril, Vera, Katzberg, Han, Soltani, Mehran, Ng, Eduardo, Siddiqi, Zaeem, Phan, Celile, Blackmore, Derrick, Vohanka, Stanislav, Bednarik, Josef, Chmelikova, Magda, Cierny, Marek, Toncrova, Stanislava, Junkerova, Jana, Kurkova, Barbora, Reguliova, Katarina, Zapletalova, Olga, Pitha, Jiri, Novakova, Iveta, Tyblova, Michaela, Wolfova, Marcela, Jurajdova, Ivana, Andersen, Henning, Harbo, Thoma, Vinge, Lotte, Mogensen, Anita, Højgaard, Joan, Witting, Nanna, Autzen, Anne Mette, Pedersen, Jane, Färkkilä, Marku, Atula, Sari, Nyrhinen, Anne, Erälinna, Juha-Pekka, Laaksonen, Mikko, Oksaranta, Olli, Eriksson, Jaana, Harrison, Tuula, Desnuelle, Claude, Sacconi, Sabrina, Soriani, Marie-Hélène, Decressac, Sonia, Moutarde, Julie, Lahaut, Pauline, Solé, Guilhem, Le Masson, Gwendal, Wielanek-Bachelet, Anne-Cécile, Gaboreau, Morgane, Moreau, Caroline, Wilson, Amy, Vial, Christophe, Bouhour, Françoise, Gervais-Bernard, Helene, Merle, Hélène, Hourquin, Caroline, Lacour, Arnaud, Outteryck, Olivier, Vermersch, Patrick, Zephir, Hélène, Millois, Edouard, Deneve, Michel, Deruelle, Fabienne, Schoser, Benedikt, Wenninger, Stephan, Stangel, Martin, Alvermann, Sascha, Gingele, Stefan, Skripuletz, Thoma, Suehs, Kurt-Wolfram, Trebst, Corinna, Fricke, Karin, Papagiannopoulos, Sotirio, Bostantzopoulou, Sevasti, Vlaikidis, Nichola, Zampaki, Martha, Papadopoulou, Nikoletta, Mitsikostas, Dimos-Dimitrio, Kasioti, Eleni, Mitropoulou, Efstathia, Charalambous, Despoina, Rozsa, Csilla, Horvath, Melinda, Lovas, Gabor, Matolcsi, Judit, Szabo, Gyorgyi, Szabadosne, Brigitta, Vecsei, Laszlo, Dezsi, Livia, Varga, Edina, Konyane, Monika, Gross, Bella, Azrilin, Olga, Greenbereg, Nelly, Bali Kuperman, Hila, Antonini, Giovanni, Garibaldi, Matteo, Morino, Stefania, Troili, Fernanda, Di Pasquale, Antonella, Filla, Alessandro, Costabile, Teresa, Marano, Enrico, Sacca, Francesco, Marsil, Angela, Puorro, Giorgia, Maestri Tassoni, Michelangelo, De Rosa, Anna, Bonanno, Silvia, Antozzi, Carlo, Maggi, Lorenzo, Campanella, Angela, Angelini, Corrado, Cudia, Paola, Pegoraro, Valentina, Pinzan, Elena, Bevilacqua, Francesca, Orrico, Daniele, Bonifati, Domenico Marco, Evoli Stampanoni-B, Amelia, Alboini, Paolo Emilio, D'Amato, Valentina, Iorio, Raffaele, Inghilleri, Maurizio, Fionda, Laura, Frasca, Vittorio, Giacomelli, Elena, Gori, Maria, Lopergolo, Diego, Onesti, Emanuela, Gabriele, Maria, Patti, Francesco, Salvatore Caramma, Andrea, Messina, Silvia, Reggio, Ester, Caserta, Cinzia, Uzawa, Akiyuki, Kanai, Tetsuya, Mori, Masahiro, Kaneko, Yoko, Kanzaki, Akiko, Kobayashi, Eri, Masaki, Katsuhisa, Matsuse, Dai, Matsushita, Takuya, Uehara, Taira, Shimpo, Misa, Jingu, Maki, Kikutake, Keiko, Nakamura, Yumiko, Sano, Yoshiko, Nagane, Yuriko, Kamegamori, Ikuko, Fujii, Yuko, Futono, Kazumi, Tsuda, Tomoko, Saito, Yuka, Suzuki, Hidekazu, Morikawa, Miyuki, Samukawa, Makoto, Kamakura, Sachiko, Shiraishi, Hirokazu, Mitazaki, Teiichiro, Motomura, Masakatsu, Mukaino, Akihiro, Yoshimura, Shunsuke, Asada, Shizuka, Kobashikawa, Tomomi, Koga, Megumi, Maeda, Yasuko, Takada, Kazumi, Takada, Mihoko Takada, Yamashita, Yumi, Yoshida, Seiko, Suzuki, Yasushi, Akiyama, Tetsuya, Narikawa, Koichi, Tsukita, Kenichi, Meguro, Fumie, Fukuda, Yusuke, Sato, Miwako, Matsuo, Hidenori, Fukudome, Takayasu, Gondo, Yuichiro, Maeda, Yasuhiro, Nagaishi, Akiko, Nakane, Shunya, Okubo, Yoshinori, Okumura, Meinoshin, Funaka, Soichiro, Kawamura, Tomohiro, Makamori, Masayuki, Takahashi, Masanori, Hasuike, Tomoya, Higuchi, Eriko, Kobayashi, Hisako, Osakada, Kaori, Taichi, Namie, Tsuda, Emiko, Hayashi, Takashi, Hisahara, Shin, Imai, Tomihiro, Kawamata, Jun, Murahara, Takashi, Saitoh, Masaki, Shimohama, Shun, Suzuki, Shuichiro, Yamamoto, Daisuke, Konno, Shingo, Imamura, Tomomi, Inoue, Masashi, Murata, Mayumi, Nakazora, Hiroshi, Nakayama, Ritsu, Ikeda, Yasuko, Ogawa, Miki, Shirane, Maoko, Kanda, Takashi, Kawai, Motoharu, Koga, Michiaki, Ogasawara, Junichi, Omoto, Masatoshi, Sano, Yasuteru, Arima, Hideki, Fukui, Sachie, Shimose, Shigemi, Shinozaki, Hirokazu, Watanabe, Masanori, Yoshikawa, Chieko, van der Kooi, Anneke, de Visser, Marianne, Gibson, Tamar, Maessen, Jo, de Baets, Marc, Faber, Catherine, Keijzers, Maria Johanna, Miesen, Monique, Kostera-Pruszczyk, Anna, Kaminska, Anna, Kim, Byung-Jo, Lee, Chang Nyoung, Koo, Yong Seo, Seok, Hung Youl, Kang, Hoo Nam, Ra, Hyejin, Kim, Byoung Joon, Cho, Eun Bin, Lee, Hyelim, Min, Ju-Hong, Seok, Jinmyoung, Koh, Da Yoon, Kwon, Juyoung, Lee, Jieun, Park, Sangae, Hong, Yoon-Ho, Lim, Jae-Sung, Kim, Miri, Kim, Seung Min, Kim, Yool-hee, Lee, Hyung Seok, Shin, Ha Young, Hwang, Eun Bi, Shin, Miju, Sazonov, Deni, Yarmoschuk, Asya, Babenko, Larisa, Malkova, Nadezhda, Melnikova, Anna, Korobko, Deni, Kosykh, Evgeniya, Pokhabov, Dmitry, Nesterova, Yulia, Abramov, Vladislav, Balyazin, Victor, Casasnovas Pons, Carlo, Alberti Aguilo, Maria, Homedes-Pedret, Christian, Palacios, Natalia Julia, Lazaro, Ana, Diez Tejedor, Exuperio, Fernandez-Fournier, Mireya, Lopez Ruiz, Pedro, Rodriguez de Rivera, Francisco Javier, Salvado Figueras, Maria, Gamez, Josep, Salvado, Maria, Cortes Vicente, Elena, Diaz-Manera, Jordi, Querol Gutierrez, Lui, Rojas Garcia, Ricardo, Vidal, Nuria, Arribas-Ibar, Elisabet, Piehl, Fredrik, Hietala, Albert, Bjarbo, Lena, Lindberg, Christopher, Jons, Daniel, Andersson, Blanka, Sengun, Ihsan, Ozcelik, Pinar, Tuga, Celal, Ugur, Muzeyyen, Boz, Cavit, Altiparmak, Didem, Gazioglu, Sibel, Ozen Aydin, Cigdem, Erdem-Ozdamar, Sevim, Bekircan-Kurt, Can Ebru, Yilmaz, Ezgi, Acar, Nazire Pinar, Caliskan, Yagmur, Efendi, Husnu, Aydinlik, Seda, Cavus, Hakan, Semiz, Cansu, Tun, Ozlem, Terzi, Murat, Dogan, Baki, Onar, Musa Kazim, Sen, Sedat, Cavdar, Tugce Kirba, Norwood, Fiona, Dimitriou, Aikaterini, Gollogly, Jakit, Mahdi-Rogers, Mohamed, Seddigh, Arshira, Maier, Gal, Sohail, Faisal, Sathasivam, Sivakumar, Arndt, Heike, Davies, Debbie, Watling, Dave, Rivner, Michael, Hartmann, J. Edward, Quarles, Brandy, Smalley, Nicole, Amato, Anthony, Cochrane, Thoma, Salajegheh, Mohammed, Roe, Kristen, Amato, Katherine, Toska, Shirli, Wolfe, Gil, Silvestri, Nichola, Patrick, Kara, Zakalik, Karen, Katz, Jonathan, Miller, Robert, Engel, Marguerite, Bravver, Elena, Brooks, Benjamin, Plevka, Sarah, Burdette, Maryanne, Sanjak, Mohammad, Kramer, Megan, Nemeth, Joanne, Schommer, Clara, Juel, Vern, Guptill, Jeffrey, Hobson-Webb, Lisa, Beck, Kate, Carnes, Donna, Loor, John, Anderson, Amanda, Lange, Dale, Agopian, Eliz, Goldstein, Jonathan, Manning, Erin, Kaplan, Lindsay, Holzberg, Shara, Kassebaum, Nicole, Pascuzzi, Robert, Bodkin, Cynthia, Kincaid, John, Snook, Riley, Guinrich, Sandra, Micheels, Angela, Chaudhry, Vinay, Corse, Andrea, Mosmiller, Betsy, Ho, Doreen, Srinivasan, Jayashri, Vytopil, Michael, Ventura, Nichola, Scala, Stephanie, Carter, Cynthia, Donahue, Craig, Herbert, Carol, Weiner, Elaine, Mckinnon, Jonathan, Haar, Laura, Mckinnon, Naya, Alcon, Karan, Daniels, Kevin, Sattar, Nadia, Jeffery, Denni, Mckenna, Kaitlyn, Guidon, Amanda, David, William, Dheel, Christina, Levine-Weinberg, Mark, Nigro, Catherine, Simpson, Ericka, Appel, Stanley H, Lai, Eugene, Lay, Lui, Pleitez, Milvia, Halton, Sharon, Faigle, Casey, Thompson, Lisa, Sivak, Mark, Shin, Susan, Bratton, Joan, Jacobs, Daniel, Brown, Gavin, Bandukwala, Ibrez, Brown, Morri, Kane, Jennifer, Blount, Ira, Freimer, Miriam, Hoyle, J. Chad, Agriesti, Julie, Khoury, Julie, Marburger, Tessa, Kaur, Harpreet, Dimitrova, Diana, Mellion, Michelle, Sachs, George, Crabtree, Brigid, Keo, Roseann, Perez, Ele Kim, Taber, Sandra, Gilchrist, Jame, Andoin, Angela, Darnell, Taylor, Goyal, Neelam, Sakamuri, Sarada, So, Yuen T, Welsh, Lesly Welsh, Bhavaraju-Sanka, Ratna, Tobon Gonzalez, Alejandro, Jones, Floyd, Saklad, Amy, Nations, Sharon, Trivedi, Jaya, Hopkins, Steve, Kazamel, Mohamed, Alsharabati, Mohammad, Lu, Liang, Mumfrey-Thomas, Sandi, Woodall, Amy, Richman, David, Butters, Janelle, Lindsay, Molly, Mozaffar, Tahseen, Cash, Tiyonnoh, Goyal, Namita, Roy, Gulmohor, Mathew, Veena, Maqsood, Fatima, Minton, Brian, Jones, H. Jame, Rosenfeld, Jeffrey, Garcia, Rebekah, Garcia, Sonia, Echevarria, Laura, Pulley, Michael, Aranke, Shachie, Berger, Alan Ro, Shah, Jaimin, Shabbir, Yasmeen, Smith, Lisa, Varghese, Mary, Gutmann, Laurie, Gutmann, Ludwig, Swenson, Andrea, Olalde, Heena, Hafer-Macko, Charlene, Kwan, Justin, Zilliox, Lindsay, Callison, Karen, Disanzo, Beth, Naunton, Kerry, Bilsker, Martin, Sharma, Khema, Reyes, Eliana, Cooley, Anne, Michon, Sara-Claude, Steele, Julie, Karam, Chafic Karam, Chopra, Manisha, Bird, Shawn, Kaufman, Jacob, Gallatti, Nichole, Vu, Tuan, Katzin, Lara, Mcclain, Terry, Harvey, Brittany, Hart, Adam, Huynh, Kristin, Beydoun, Said, Chilingaryan, Amaiak, Droker, Brian, Lin, Frank, Shah, Akshay, Tran, Anh, Akhter, Salma, Malekniazi, Ali, Tandan, Rup, Hehir, Michael, Waheed, Waqar, Lucy, Shannon, Weiss, Michael, Distad, Jane, Downing, Sharon, Strom, Susan, Lisak, Robert, Bernitsas, Evanthia, Khan, Omar, Kumar Sriwastava, Shitiz, Tselis, Alexandro, Jia, Kelly, Bertorini, Tulio, Arnold, Thoma, Henderson, Kendrick, Pillai, Rekha, Liu, Ye, Wheeler, Lauren, Hewlett, Jasmine, Vanderhook, Mollie, Dicapua, Daniel, Keung, Benison, Kumar, Aditya, Patwa, Huned, Robeson, Kimberly, Nye, Joan, Vu, Hong, and Evoli, Amelia (ORCID:0000-0003-0282-8787)

Abstract

Background Complement is likely to have a role in refractory generalised myasthenia gravis, but no approved therapies specifically target this system. Results from a phase 2 study suggested that eculizumab, a terminal complement inhibitor, produced clinically meaningful improvements in patients with anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis. We further assessed the efficacy and safety of eculizumab in this patient population in a phase 3 trial. Methods We did a phase 3, randomised, double-blind, placebo-controlled, multicentre study (REGAIN) in 76 hospitals and specialised clinics in 17 countries across North America, Latin America, Europe, and Asia. Eligible patients were aged at least 18 years, with a Myasthenia Gravis-Activities of Daily Living (MG-ADL) score of 6 or more, Myasthenia Gravis Foundation of America (MGFA) class II–IV disease, vaccination against Neisseria meningitides, and previous treatment with at least two immunosuppressive therapies or one immunosuppressive therapy and chronic intravenous immunoglobulin or plasma exchange for 12 months without symptom control. Patients with a history of thymoma or thymic neoplasms, thymectomy within 12 months before screening, or use of intravenous immunoglobulin or plasma exchange within 4 weeks before randomisation, or rituximab within 6 months before screening, were excluded. We randomly assigned participants (1:1) to either intravenous eculizumab or intravenous matched placebo for 26 weeks. Dosing for eculizumab was 900 mg on day 1 and at weeks 1, 2, and 3; 1200 mg at week 4; and 1200 mg given every second week thereafter as maintenance dosing. Randomisation was done centrally with an interactive voice or web-response system with patients stratified to one of four groups based on MGFA disease classification. Where possible, patients were maintained on existing myasthenia gravis therapies and rescue medication was allowed at the study physician's discretion. Pat

Published
2017

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