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143 results on '"Gläser, Dieter"'

1. SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Author

Nashabat, Marwan, Nabavizadeh, Nasrinsadat, Saraçoğlu, Hilal Pırıl, Sarıbaş, Burak, Avcı, Şahin, Börklü, Esra, Beillard, Emmanuel, Yılmaz, Elanur, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem, Bosco, Luca, Eren, Zeynep Bengi, Steindl, Katharina, Richter, Manuela Friederike, Bademci, Guney, Rauch, Anita, Fattahi, Zohreh, Valentino, Maria Lucia, Connolly, Anne M., Bahr, Angela, Viola, Laura, Bergmann, Anke Katharina, Rocha, Maria Eugenia, Peart, LeShon, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca Ioana, Gonzalez, Joanna Michelle, Pini, Antonella, Schädlich, Ines Sophie, Vill, Katharina, Brugger, Melanie, Zuchner, Stephan, Pinto, Andreia, Donkervoort, Sandra, Bivona, Stephanie Ann, Riza, Anca, Streata, Ioana, Gläser, Dieter, Baquero-Montoya, Carolina, Garcia-Restrepo, Natalia, Kotzaeridou, Urania, Brunet, Theresa, Epure, Diana Anamaria, Bertoli-Avella, Aida, Kariminejad, Ariana, Tekin, Mustafa, von Hardenberg, Sandra, Bönnemann, Carsten G., Stettner, Georg M., Zanni, Ginevra, Kayserili, Hülya, Oflazer, Zehra Piraye, and Escande-Beillard, Nathalie

Published
2024
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2. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Author

Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary JH, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, and Horvath, Rita

Subjects
Neurosciences, Neurodegenerative, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Female, Humans, Male, Mice, Mutation, Oxygenases, Pedigree, Rats, Spastic Paraplegia, Hereditary, Zebrafish, hereditary spastic paraplegia, HSP, autosomal recessive, mitochondrial disorder, HPDL, Genomics England Research Consortium, PREPARE network, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays.

Published
2021

6. Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial

Author

Schwartz, Oliver, Vill, Katharina, Pfaffenlehner, Michelle, Behrens, Max, Weiß, Claudia, Johannsen, Jessika, Friese, Johannes, Hahn, Andreas, Ziegler, Andreas, Illsinger, Sabine, Smitka, Martin, von Moers, Arpad, Kölbel, Heike, Schreiber, Gudrun, Kaiser, Nadja, Wilichowski, Ekkehard, Flotats-Bastardas, Marina, Husain, Ralf A., Baumann, Matthias, Köhler, Cornelia, Trollmann, Regina, Schwerin-Nagel, Annette, Eisenkölbl, Astrid, Schimmel, Mareike, Fleger, Martin, Kauffmann, Birgit, Wiegand, Gert, Baumgartner, Manuela, Rauscher, Christian, Cirak, Sebahattin, Gläser, Dieter, Bernert, Günther, Hagenacker, Tim, Goldbach, Susanne, Probst-Schendzielorz, Kristina, Lochmüller, Hanns, Müller-Felber, Wolfgang, Schara-Schmidt, Ulrike, Walter, Maggie C., Kirschner, Janbernd, and Pechmann, Astrid

Abstract

IMPORTANCE: There is increasing evidence that early diagnosis and treatment are key for outcomes in infants with spinal muscular atrophy (SMA), and newborn screening programs have been implemented to detect the disease before onset of symptoms. However, data from controlled studies that reliably confirm the benefits of newborn screening are lacking. OBJECTIVE: To compare data obtained on patients with SMA diagnosed through newborn screening and those diagnosed after clinical symptom onset. DESIGN, SETTING, AND PARTICIPANTS: This nonrandomized controlled trial used data from the SMARTCARE registry to evaluate all children born between January 2018 and September 2021 with genetically confirmed SMA and up to 3 SMN2 copies. The registry includes data from 70 participating centers in Germany, Austria, and Switzerland. Data analysis was performed in February 2023 so that all patients had a minimal follow-up of 18 months. EXPOSURE: Patients born in 2 federal states in Germany underwent screening in a newborn screening pilot project. All other patients were diagnosed after clinical symptom onset. All patients received standard care within the same health care system. MAIN OUTCOMES: The primary end point was the achievement of motor milestones. RESULTS: A total of 234 children (123 [52.6%] female) were identified who met inclusion criteria and were included in the analysis: 44 (18.8%) in the newborn screening cohort and 190 children (81.2%) in the clinical symptom onset cohort. The mean (SD) age at start of treatment with 1 of the approved disease-modifying drugs was 1.3 (2.2) months in the newborn screening cohort and 10.7 (9.1) months in the clinical symptom onset cohort. In the newborn screening cohort, 40 of 44 children (90.9%) gained the ability to sit independently vs 141 of 190 (74.2%) in the clinical symptom onset cohort. For independent ambulation, the ratio was 28 of 40 (63.6%) vs 28 of 190 (14.7%). CONCLUSIONS AND RELEVANCE: This nonrandomized controlled trial demonstrated effectiveness of newborn screening for infants with SMA in the real-world setting. Functional outcomes and thus the response to treatment were significantly better in the newborn screening cohort compared to the unscreened clinical symptom onset group. TRIAL REGISTRATION: German Clinical Trials Register: DRKS00012699

Published
2024
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7. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Author

Lischka, Annette, primary, Eggermann, Katja, additional, Record, Christopher J, additional, Dohrn, Maike F, additional, Laššuthová, Petra, additional, Kraft, Florian, additional, Begemann, Matthias, additional, Dey, Daniela, additional, Eggermann, Thomas, additional, Beijer, Danique, additional, Šoukalová, Jana, additional, Laura, Matilde, additional, Rossor, Alexander M, additional, Mazanec, Radim, additional, Van Lent, Jonas, additional, Tomaselli, Pedro J, additional, Ungelenk, Martin, additional, Debus, Karlien Y, additional, Feely, Shawna M E, additional, Gläser, Dieter, additional, Jagadeesh, Sujatha, additional, Martin, Madelena, additional, Govindaraj, Geeta M, additional, Singhi, Pratibha, additional, Baineni, Revanth, additional, Biswal, Niranjan, additional, Ibarra-Ramírez, Marisol, additional, Bonduelle, Maryse, additional, Gess, Burkhard, additional, Sánchez, Juan Romero, additional, Suthar, Renu, additional, Udani, Vrajesh, additional, Nalini, Atchayaram, additional, Unnikrishnan, Gopikrishnan, additional, Junior, Wilson Marques, additional, Mercier, Sandra, additional, Procaccio, Vincent, additional, Bris, Céline, additional, Suresh, Beena, additional, Reddy, Vaishnavi, additional, Skorupinska, Mariola, additional, Bonello-Palot, Nathalie, additional, Mochel, Fanny, additional, Dahl, Georg, additional, Sasidharan, Karthika, additional, Devassikutty, Fiji M, additional, Nampoothiri, Sheela, additional, Doriqui, Maria J Rodovalho, additional, Müller-Felber, Wolfgang, additional, Vill, Katharina, additional, Haack, Tobias B, additional, Dufke, Andreas, additional, Abele, Michael, additional, Stucka, Rolf, additional, Siddiqi, Saima, additional, Ullah, Noor, additional, Spranger, Stephanie, additional, Chiabrando, Deborah, additional, Bolgül, Behiye S, additional, Parman, Yesim, additional, Seeman, Pavel, additional, Lampert, Angelika, additional, Schulz, Jörg B, additional, Wood, John N, additional, Cox, James J, additional, Auer-Grumbach, Michaela, additional, Timmerman, Vincent, additional, de Winter, Jonathan, additional, Themistocleous, Andreas C, additional, Shy, Michael, additional, Bennett, David L, additional, Baets, Jonathan, additional, Hübner, Christian A, additional, Leipold, Enrico, additional, Züchner, Stephan, additional, Elbracht, Miriam, additional, Çakar, Arman, additional, Senderek, Jan, additional, Hornemann, Thorsten, additional, Woods, C Geoffrey, additional, Reilly, Mary M, additional, and Kurth, Ingo, additional

Published
2023
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9. Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants

Author

Unger, Andreas, primary, Roos, Andreas, additional, Gangfuß, Andrea, additional, Hentschel, Andreas, additional, Gläser, Dieter, additional, Krause, Karsten, additional, Doering, Kristina, additional, Schara-Schmidt, Ulrike, additional, Hoffjan, Sabine, additional, Vorgerd, Matthias, additional, and Güttsches, Anne-Katrin, additional

Published
2023
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10. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Author

Lischka, Annette; https://orcid.org/0000-0001-8042-4361, Eggermann, Katja, Record, Christopher J; https://orcid.org/0000-0002-9802-2683, Dohrn, Maike F; https://orcid.org/0000-0002-5320-9807, Laššuthová, Petra, Kraft, Florian; https://orcid.org/0000-0002-5324-9155, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas; https://orcid.org/0000-0002-8419-0264, Beijer, Danique; https://orcid.org/0000-0001-6593-7644, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M, Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J; https://orcid.org/0000-0002-1485-3771, Ungelenk, Martin, Debus, Karlien Y, Feely, Shawna M E, Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M, Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Hornemann, T; https://orcid.org/0000-0002-4218-1087, et al, Lischka, Annette; https://orcid.org/0000-0001-8042-4361, Eggermann, Katja, Record, Christopher J; https://orcid.org/0000-0002-9802-2683, Dohrn, Maike F; https://orcid.org/0000-0002-5320-9807, Laššuthová, Petra, Kraft, Florian; https://orcid.org/0000-0002-5324-9155, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas; https://orcid.org/0000-0002-8419-0264, Beijer, Danique; https://orcid.org/0000-0001-6593-7644, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M, Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J; https://orcid.org/0000-0002-1485-3771, Ungelenk, Martin, Debus, Karlien Y, Feely, Shawna M E, Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M, Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Hornemann, T; https://orcid.org/0000-0002-4218-1087, and et al

Abstract

Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rarity of the diseases and findings based mainly on single case reports or small case series, knowledge about these disorders is limited. Here, we describe the molecular workup of a large international cohort of CIP/HSAN patients including patients from normally under-represented countries. We identify 80 previously unreported pathogenic or likely pathogenic variants in a total of 73 families in the >20 known CIP/HSAN-associated genes. The data expand the spectrum of disease-relevant alterations in CIP/HSAN, including novel variants in previously rarely recognized entities such as ATL3-, FLVCR1- and NGF-associated neuropathies and previously under-recognized mutation types such as larger deletions. In silico predictions, heterologous expression studies, segregation analyses and metabolic tests helped to overcome limitations of current variant classification schemes that often fail to categorize a variant as disease-related or benign. The study sheds light on the genetic causes and disease-relevant changes within individual genes in CIP/HSAN. This is becoming increasingly important with emerging clinical trials investigating subtype or gene-specific treatment strategies.

Published
2023

11. Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany

Author

Müller-Felber, Wolfgang, primary, Blaschek, Astrid, additional, Schwartz, Oliver, additional, Gläser, Dieter, additional, Nennstiel, Uta, additional, Brockow, Inken, additional, Wirth, Brunhilde, additional, Burggraf, Siegfried, additional, Röschinger, Wulf, additional, Becker, Marc, additional, Durner, Jürgen, additional, Eggermann, Katja, additional, Kölbel, Heike, additional, Müller, Christine, additional, Hannibal, Iris, additional, Olgemöller, Bernd, additional, Schara, Ulrike, additional, von Moers, Arpad, additional, Trollmann, Regina, additional, Johannssen, Jessika, additional, Ziegler, Andreas, additional, Cirak, Sebahattin, additional, Hahn, Andreas, additional, von der Hagen, Maja, additional, Weiss, Claudia, additional, Schreiber, Gudrun, additional, Flotats-Bastardas, Marina, additional, Hartmann, Hans, additional, Illsinger, Sabine, additional, Pechmann, Astrid, additional, Horber, Veronka, additional, Kirschner, Jan, additional, Köhler, Cornelia, additional, Winter, Benedikt, additional, Friese, Johannes, additional, and Vill, Katharina, additional

Published
2023
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13. Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy

Author

Erdmann, Hannes, primary, Scharf, Florentine, additional, Gehling, Stefanie, additional, Benet-Pagès, Anna, additional, Jakubiczka, Sibylle, additional, Becker, Kerstin, additional, Seipelt, Maria, additional, Kleefeld, Felix, additional, Knop, Karl Christian, additional, Prott, Eva-Christina, additional, Hiebeler, Miriam, additional, Montagnese, Federica, additional, Gläser, Dieter, additional, Vorgerd, Matthias, additional, Hagenacker, Tim, additional, Walter, Maggie C, additional, Reilich, Peter, additional, Neuhann, Teresa, additional, Zenker, Martin, additional, Holinski-Feder, Elke, additional, Schoser, Benedikt, additional, and Abicht, Angela, additional

Published
2022
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18. Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.

Author

Erdmann, Hannes, Scharf, Florentine, Gehling, Stefanie, Benet-Pagès, Anna, Jakubiczka, Sibylle, Becker, Kerstin, Seipelt, Maria, Kleefeld, Felix, Knop, Karl Christian, Prott, Eva-Christina, Hiebeler, Miriam, Montagnese, Federica, Gläser, Dieter, Vorgerd, Matthias, Hagenacker, Tim, Walter, Maggie C, Reilich, Peter, Neuhann, Teresa, Zenker, Martin, and Holinski-Feder, Elke

Subjects
FACIOSCAPULOHUMERAL muscular dystrophy, METHYLATION, MUSCULAR dystrophy, GENETIC testing, HAPLOTYPES, NUCLEOTIDE sequencing
Abstract

Genetic diagnosis of facioscapulohumeral muscular dystrophy (FSHD) remains a challenge in clinical practice as it cannot be detected by standard sequencing methods despite being the third most common muscular dystrophy. The conventional diagnostic strategy addresses the known genetic parameters of FSHD: the required presence of a permissive haplotype, a size reduction of the D4Z4 repeat of chromosome 4q35 (defining FSHD1) or a pathogenic variant in an epigenetic suppressor gene (consistent with FSHD2). Incomplete penetrance and epistatic effects of the underlying genetic parameters as well as epigenetic parameters (D4Z4 methylation) pose challenges to diagnostic accuracy and hinder prediction of clinical severity. In order to circumvent the known limitations of conventional diagnostics and to complement genetic parameters with epigenetic ones, we developed and validated a multistage diagnostic workflow that consists of a haplotype analysis and a high-throughput methylation profile analysis (FSHD-MPA). FSHD-MPA determines the average global methylation level of the D4Z4 repeat array as well as the regional methylation of the most distal repeat unit by combining bisulphite conversion with next-generation sequencing and a bioinformatics pipeline and uses these as diagnostic parameters. We applied the diagnostic workflow to a cohort of 148 patients and compared the epigenetic parameters based on FSHD-MPA to genetic parameters of conventional genetic testing. In addition, we studied the correlation of repeat length and methylation level within the most distal repeat unit with age-corrected clinical severity and age at disease onset in FSHD patients. The results of our study show that FSHD-MPA is a powerful tool to accurately determine the epigenetic parameters of FSHD, allowing discrimination between FSHD patients and healthy individuals, while simultaneously distinguishing FSHD1 and FSHD2. The strong correlation between methylation level and clinical severity indicates that the methylation level determined by FSHD-MPA accounts for differences in disease severity among individuals with similar genetic parameters. Thus, our findings further confirm that epigenetic parameters rather than genetic parameters represent FSHD disease status and may serve as a valuable biomarker for disease status. [ABSTRACT FROM AUTHOR]

Published
2023
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19. Muscle MRI findings in limb girdle muscular dystrophy type 2L

Author

Sarkozy, Anna, Deschauer, Marcus, Carlier, Robert-Yves, Schrank, Bertold, Seeger, Jürgen, Walter, Maggie C., Schoser, Benedikt, Reilich, Peter, Leturq, France, Radunovic, Aleksandar, Behin, Anthony, Laforet, Pascal, Eymard, Bruno, Schreiber, Herbert, Hicks, Debbie, Vaidya, Sujit S., Gläser, Dieter, Carlier, Pierre G., Bushby, Kate, Lochmüller, Hanns, and Straub, Volker

Published
2012
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20. Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?

Author

Müller-Felber, Wolfgang, Vill, Katharina, Schwartz, Oliver, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Durner, Jürgen, Eggermann, Katja, Müller, Christine, Hannibal, Iris, Olgemöller, Bernd, Schara, Ulrike, Blaschek, Astrid, and Kölbel, Heike

Subjects
Male, Research Report, newborn screening, Medizin, Infant, Newborn, Infant, Pilot Projects, Spinal muscular atrophy, Survival of Motor Neuron 1 Protein, Pedigree, nervous system diseases, Muscular Atrophy, Spinal, Survival of Motor Neuron 2 Protein, Neonatal Screening, survival motor neuron gene, Germany, Humans, Female, Erratum, Follow-Up Studies, SMN2
Abstract

Although the value of newborn screening (NBS) for early detection and treatment opportunity in SMA patients is generally accepted, there is still an ongoing discussion about the best strategy in children with 4 and more copies of the SMN2 gene. This gene is known to be the most important but not the only disease modifier. In our SMA-NBS pilot project in Germany comprising 278,970 infants screened between January 2018 and November 2019 were 38 positive cases with a homozygous SMN1 deletion. 40% of them had 4 or more SMN2 copies. The incidence for homozygous SMN1 deletion was 1 : 7350, which is within the known range of SMA incidence in Germany. Of the 15 SMA children with 4 SMN2 copies, one child developed physical signs of SMA by the age of 8 months. Reanalysis of the SMN2 copy number by a different test method revealed 3 copies. Two children had affected siblings with SMA Type III, who were diagnosed only after detection of the index patient in the NBS. One had a positive family history with an affected aunt (onset of disease at the age of 3 years). Three families were lost to medical follow up; two because of socioeconomic reasons and one to avoid the psychological stress associated with the appointments. Decisions on how to handle patients with 4 SMN2 copies are discussed in the light of the experience gathered from our NBS pilot SMA program.

Published
2020

21. Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex

Author

Falb, Ruth J, primary, Müller, Amelie J, additional, Klein, Wolfram, additional, Grimmel, Mona, additional, Grasshoff, Ute, additional, Spranger, Stephanie, additional, Stöbe, Petra, additional, Gauck, Darja, additional, Kuechler, Alma, additional, Dikow, Nicola, additional, Schwaibold, Eva M C, additional, Schmidt, Christoph, additional, Averdunk, Luisa, additional, Buchert, Rebecca, additional, Heinrich, Tilman, additional, Prodan, Natalia, additional, Park, Joohyun, additional, Kehrer, Martin, additional, Sturm, Marc, additional, Kelemen, Olga, additional, Hartmann, Silke, additional, Horn, Denise, additional, Emmerich, Dirk, additional, Hirt, Nina, additional, Neumann, Armin, additional, Kristiansen, Glen, additional, Gembruch, Ulrich, additional, Haen, Susanne, additional, Siebert, Reiner, additional, Hentze, Sabine, additional, Hoopmann, Markus, additional, Ossowski, Stephan, additional, Waldmüller, Stephan, additional, Beck-Wödl, Stefanie, additional, Gläser, Dieter, additional, Tekesin, Ismail, additional, Distelmaier, Felix, additional, Riess, Olaf, additional, Kagan, Karl-Oliver, additional, Dufke, Andreas, additional, and Haack, Tobias B, additional

Published
2021
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22. Neugeborenenscreeningprogramm für die spinale Muskelatrophie

Author

Kölbel, Heike, primary, Vill, Katharina, additional, Schwartz, Oliver, additional, Blaschek, Astrid, additional, Nennstiel, Uta, additional, Schara-Schmidt, Ulrike, additional, Hoffmann, Georg F., additional, Gläser, Dieter, additional, Röschinger, Wulf, additional, Bernert, Günther, additional, Klein, Andrea, additional, and Müller-Felber, Wolfgang, additional

Published
2021
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25. Additional file 1 of Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

Author

Vill, Katharina, Schwartz, Oliver, Blaschek, Astrid, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Czibere, Ludwig, Durner, Jürgen, Eggermann, Katja, Olgemöller, Bernhard, Harms, Erik, Schara, Ulrike, Kölbel, Heike, and Müller-Felber, Wolfgang

Abstract

Additional file 1. Table S1: Age at first consultation at the treatment center or at collection of thesecond blood sample, discrepancy in SMN2 estimation, early-onset symptoms, and initial resultsfrom electrophysiology and CHOP INTEND. Y = years, mo = months, d = days, neg = negative,pos = positive.

Published
2021
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26. Additional file 2 of Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

Author

Vill, Katharina, Schwartz, Oliver, Blaschek, Astrid, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Czibere, Ludwig, Durner, Jürgen, Eggermann, Katja, Olgemöller, Bernhard, Harms, Erik, Schara, Ulrike, Kölbel, Heike, and Müller-Felber, Wolfgang

Abstract

Additional file 2. Table S2: Patient’s family history, ethnical background, and outcome details. = years, mo = months, d = days, neg = negative, pos = positive.

Published
2021
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28. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

Author

Sarkozy, Anna, Hicks, Debbie, Hudson, Judith, Laval, Steve H., Barresi, Rita, Hilton-Jones, David, Deschauer, Marcus, Harris, Elizabeth, Rufibach, Laura, Hwang, Esther, Bashir, Rumaisa, Walter, Maggie C., Krause, Sabine, van den Bergh, Peter, Illa, Isabel, Pénisson-Besnier, Isabelle, De Waele, Liesbeth, Turnbull, Doug, Guglieri, Michela, Schrank, Bertold, Schoser, Benedikt, Seeger, Jürgen, Schreiber, Herbert, Gläser, Dieter, Eagle, Michelle, Bailey, Geraldine, Walters, Richard, Longman, Cheryl, Norwood, Fiona, Winer, John, Muntoni, Francesco, Hanna, Michael, Roberts, Mark, Bindoff, Laurence A., Brierley, Charlotte, Cooper, Robert G., Cottrell, David A., Davies, Nick P., Gibson, Andrew, Gorman, Gráinne S., Hammans, Simon, Jackson, Andrew P., Khan, Aijaz, Lane, Russell, McConville, John, McEntagart, Meriel, Al-Memar, Ali, Nixon, John, Panicker, Jay, Parton, Matt, Petty, Richard, Price, Christopher J., Rakowicz, Wojtek, Ray, Partha, Schapira, Anthony H., Swingler, Robert, Turner, Chris, Wagner, Kathryn R., Maddison, Paul, Shaw, Pamela J., Straub, Volker, Bushby, Kate, and Lochmüller, Hanns

Published
2013
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30. Newborn Screening for SMA - Results After Two Years of a Large Pilot Project 

Author

Vill, Katharina, primary, Schwartz, Oliver, additional, Blaschek, Astrid, additional, Gläser, Dieter, additional, Nennstiel, Uta, additional, Wirth, Brunhilde, additional, Burggraf, Siegfried, additional, Röschinger, Wulf, additional, Becker, Marc, additional, Czibere, Ludwig, additional, Durner, Jürgen, additional, Eggermann, Katja, additional, Olgemöller, Bernhard, additional, Harms, Erik, additional, Schara, Ulrike, additional, Kölbel, Heike, additional, and Müller-Felber, Wolfgang, additional

Published
2020
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32. Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

Author

Savarese, Marco, primary, Johari, Mridul, additional, Johnson, Katherine, additional, Arumilli, Meharji, additional, Torella, Annalaura, additional, Töpf, Ana, additional, Rubegni, Anna, additional, Kuhn, Marius, additional, Giugliano, Teresa, additional, Gläser, Dieter, additional, Fattori, Fabiana, additional, Thompson, Rachel, additional, Penttilä, Sini, additional, Lehtinen, Sara, additional, Gibertini, Sara, additional, Ruggieri, Alessandra, additional, Mora, Marina, additional, Maver, Ales, additional, Peterlin, Borut, additional, Mankodi, Ami, additional, Lochmüller, Hanns, additional, Santorelli, Filippo Maria, additional, Schoser, Benedikt, additional, Fajkusová, Lenka, additional, Straub, Volker, additional, Nigro, Vincenzo, additional, Hackman, Peter, additional, and Udd, Bjarne, additional

Published
2020
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33. Newborn Screening for SMA - Results after Two Years of a German Pilot Project

Author

Vill, Katharina, primary, Schwartz, Oliver, additional, Blaschek, Astrid, additional, Gläser, Dieter, additional, Nennstie, Uta, additional, Wirth, Brunhilde, additional, Burggraf, Siegfried, additional, Röschinger, Wulf, additional, Becker, Marc, additional, Czibere, Ludwig, additional, Durner, Jürgen, additional, Eggermann, Katja, additional, Olgemöller, Bernhard, additional, Harms, Erik, additional, Schara, Ulrike, additional, Kölbe, Heike, additional, and Müller-Felber, Wolfgang, additional

Published
2020
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35. One Year of Newborn Screening for SMA – Results of a German Pilot Project

Author

Vill, Katharina, primary, Kölbel, Heike, additional, Schwartz, Oliver, additional, Blaschek, Astrid, additional, Olgemöller, Bernhard, additional, Harms, Erik, additional, Burggraf, Siegfried, additional, Röschinger, Wulf, additional, Durner, Jürgen, additional, Gläser, Dieter, additional, Nennstiel, Uta, additional, Wirth, Brunhilde, additional, Schara, Ulrike, additional, Jensen, Beate, additional, Becker, Marc, additional, Hohenfellner, Katharina, additional, and Müller-Felber, Wolfgang, additional

Published
2019
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38. Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

Author

Montagnese, Federica, Klupp, Elisabeth, Karampinos, Dimitrios C., Biskup, Saskia, gläser, Dieter, Kirschke, Jan S., Schoser, Benedikt, and Gläser, Dieter

Abstract

Introduction: Mutations in the guanosine diphosphate-mannose pyrophosphorylase-B gene (GMPPB) have been identified in congenital muscular dystrophies, limb-girdle muscular dystrophy (LGMD2T), and congenital myasthenic syndromes (CMSs); overall, 41 patients have been described.Methods: Two patients presented with a myasthenic syndrome (patient 1; 74 years old) and rhabdomyolysis (patient 2; 23 years old). Examinations included repetitive nerve stimulation, muscle biopsy and whole-body MRI (WBMRI); next generation sequencing facilitated diagnosis.Results: We identified the following GMPPB mutations: c.79G>C/c.859C>T in the 23-year-old man with LGMD2T-phenotype and c.79G>C homozygosity in the 74-year-old woman with CMS phenotype. WBMRI showed fatty degeneration of paraspinal, thigh adductor, and calf muscles in patient 1 and edematous changes of the soleus muscle in patient 2.Conclusions: This case of c.79G>C homozygosity causing a mild, late-onset CMS phenotype, confirms the mild nature of this common mutation. The descriptions of these 2 new GMPPB cases add to the knowledge regarding this recently discovered, heterogeneous disease. Muscle Nerve 56: 334-340, 2017. [ABSTRACT FROM AUTHOR]

Published
2017
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39. Genetic diagnosis of Mendelian disorders via RNA sequencing

Author

Kremer, Laura S., primary, Bader, Daniel M., additional, Mertes, Christian, additional, Kopajtich, Robert, additional, Pichler, Garwin, additional, Iuso, Arcangela, additional, Haack, Tobias B., additional, Graf, Elisabeth, additional, Schwarzmayr, Thomas, additional, Terrile, Caterina, additional, Koňaříková, Eliška, additional, Repp, Birgit, additional, Kastenmüller, Gabi, additional, Adamski, Jerzy, additional, Lichtner, Peter, additional, Leonhardt, Christoph, additional, Funalot, Benoit, additional, Donati, Alice, additional, Tiranti, Valeria, additional, Lombes, Anne, additional, Jardel, Claude, additional, Gläser, Dieter, additional, Taylor, Robert W., additional, Ghezzi, Daniele, additional, Mayr, Johannes A., additional, Rötig, Agnes, additional, Freisinger, Peter, additional, Distelmaier, Felix, additional, Strom, Tim M., additional, Meitinger, Thomas, additional, Gagneur, Julien, additional, and Prokisch, Holger, additional

Published
2017
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40. Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2Copies through Newborn Screening – Opportunity or Burden?

Author

Müller-Felber, Wolfgang, Vill, Katharina, Schwartz, Oliver, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Durner, Jürgen, Eggermann, Katja, Müller, Christine, Hannibal, Iris, Olgemöller, Bernd, Schara, Ulrike, Blaschek, Astrid, and Kölbel, Heike

Abstract

Although the value of newborn screening (NBS) for early detection and treatment opportunity in SMA patients is generally accepted, there is still an ongoing discussion about the best strategy in children with 4 and more copies of the SMN2gene. This gene is known to be the most important but not the only disease modifier. In our SMA-NBS pilot project in Germany comprising 278,970 infants screened between January 2018 and November 2019 were 38 positive cases with a homozygous SMN1deletion. 40% of them had 4 or more SMN2copies. The incidence for homozygous SMN1deletion was 1 : 7350, which is within the known range of SMA incidence in Germany. Of the 15 SMA children with 4 SMN2copies, one child developed physical signs of SMA by the age of 8 months. Reanalysis of the SMN2 copy number by a different test method revealed 3 copies. Two children had affected siblings with SMA Type III, who were diagnosed only after detection of the index patient in the NBS. One had a positive family history with an affected aunt (onset of disease at the age of 3 years). Three families were lost to medical follow up; two because of socioeconomic reasons and one to avoid the psychological stress associated with the appointments. Decisions on how to handle patients with 4 SMN2copies are discussed in the light of the experience gathered from our NBS pilot SMA program.

Published
2020
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41. Genetic diagnosis of Mendelian disorders via RNA sequencing

Author

Kremer, Laura S, primary, Bader, Daniel M, additional, Mertes, Christian, additional, Kopajtich, Robert, additional, Pichler, Garwin, additional, Iuso, Arcangela, additional, Haack, Tobias B, additional, Graf, Elisabeth, additional, Schwarzmayr, Thomas, additional, Terrile, Caterina, additional, Koňařiková, Eliška, additional, Repp, Birgit, additional, Kastenmüller, Gabi, additional, Adamski, Jerzy, additional, Lichtner, Peter, additional, Leonhardt, Christoph, additional, Funalot, Benoit, additional, Donati, Alice, additional, Tiranti, Valeria, additional, Lombes, Anne, additional, Jardel, Claude, additional, Gläser, Dieter, additional, Taylor, Robert W., additional, Ghezzi, Daniele, additional, Mayr, Johannes A, additional, Rötig, Agnes, additional, Freisinger, Peter, additional, Distelmaier, Felix, additional, Strom, Tim M, additional, Meitinger, Thomas, additional, Gagneur, Julien, additional, and Prokisch, Holger, additional

Published
2016
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46. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Author

UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Sarkozy, Anna, Hicks, Debbie, Hudson, Judith, Laval, Steve H, Barresi, Rita, Hilton-Jones, David, Deschauer, Marcus, Harris, Elizabeth, Rufibach, Laura, Hwang, Esther, Bashir, Rumaisa, Walter, Maggie C, Krause, Sabine, Van den Bergh, Peter, Illa, Isabel, Pénisson-Besnier, Isabelle, De Waele, Liesbeth, Turnbull, Doug, Guglieri, Michela, Schrank, Bertold, Schoser, Benedikt, Seeger, Jürgen, Schreiber, Herbert, Gläser, Dieter, Eagle, Michelle, Bailey, Geraldine, Walters, Richard, Longman, Cheryl, Norwood, Fiona, Winer, John, Muntoni, Francesco, Hanna, Michael, Roberts, Mark, Bindoff, Laurence A, Brierley, Charlotte, Cooper, Robert G, Cottrell, David A, Davies, Nick P, Gibson, Andrew, Gorman, Gráinne S, Hammans, Simon, Jackson, Andrew P, Khan, Aijaz, Lane, Russell, McConville, John, McEntagart, Meriel, Al-Memar, Ali, Nixon, John, Panicker, Jay, Parton, Matt, Petty, Richard, Price, Christopher J, Rakowicz, Wojtek, Ray, Partha, Schapira, Anthony H, Swingler, Robert, Turner, Chris, Wagner, Kathryn R, Maddison, Paul, Shaw, Pamela J, Straub, Volker, Bushby, Kate, Lochmüller, Hanns, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Sarkozy, Anna, Hicks, Debbie, Hudson, Judith, Laval, Steve H, Barresi, Rita, Hilton-Jones, David, Deschauer, Marcus, Harris, Elizabeth, Rufibach, Laura, Hwang, Esther, Bashir, Rumaisa, Walter, Maggie C, Krause, Sabine, Van den Bergh, Peter, Illa, Isabel, Pénisson-Besnier, Isabelle, De Waele, Liesbeth, Turnbull, Doug, Guglieri, Michela, Schrank, Bertold, Schoser, Benedikt, Seeger, Jürgen, Schreiber, Herbert, Gläser, Dieter, Eagle, Michelle, Bailey, Geraldine, Walters, Richard, Longman, Cheryl, Norwood, Fiona, Winer, John, Muntoni, Francesco, Hanna, Michael, Roberts, Mark, Bindoff, Laurence A, Brierley, Charlotte, Cooper, Robert G, Cottrell, David A, Davies, Nick P, Gibson, Andrew, Gorman, Gráinne S, Hammans, Simon, Jackson, Andrew P, Khan, Aijaz, Lane, Russell, McConville, John, McEntagart, Meriel, Al-Memar, Ali, Nixon, John, Panicker, Jay, Parton, Matt, Petty, Richard, Price, Christopher J, Rakowicz, Wojtek, Ray, Partha, Schapira, Anthony H, Swingler, Robert, Turner, Chris, Wagner, Kathryn R, Maddison, Paul, Shaw, Pamela J, Straub, Volker, Bushby, Kate, and Lochmüller, Hanns

Abstract

Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has been identified in most of the British and German LGMD2L patients so far reported. We aimed to further investigate the prevalence and spectrum of ANO5 gene mutations and related clinical phenotypes, by screening 205 undiagnosed patients referred to our molecular service with a clinical suspicion of anoctaminopathy. A total of 42 unrelated patients had two ANO5 mutations (21%), whereas 14 carried a single change. We identified 34 pathogenic changes, 15 of which are novel. The c.191dupA mutation represents 61% of mutated alleles and appears to be less prevalent in non-Northern European populations. Retrospective clinical analysis corroborates the prevalently proximal lower limb phenotype, the male predominance and absence of major cardiac or respiratory involvement. Identification of cases with isolated hyperCKaemia and very late symptomatic male and female subjects confirms the extension of the phenotypic spectrum of the disease. Anoctaminopathy appears to be one of the most common adult muscular dystrophies in Northern Europe, with a prevalence of about 20%-25% in unselected undiagnosed cases.

Published
2013

47. ANO5Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

Author

Sarkozy, Anna, primary, Hicks, Debbie, additional, Hudson, Judith, additional, Laval, Steve H., additional, Barresi, Rita, additional, Hilton-Jones, David, additional, Deschauer, Marcus, additional, Harris, Elizabeth, additional, Rufibach, Laura, additional, Hwang, Esther, additional, Bashir, Rumaisa, additional, Walter, Maggie C., additional, Krause, Sabine, additional, van den Bergh, Peter, additional, Illa, Isabel, additional, Pénisson-Besnier, Isabelle, additional, De Waele, Liesbeth, additional, Turnbull, Doug, additional, Guglieri, Michela, additional, Schrank, Bertold, additional, Schoser, Benedikt, additional, Seeger, Jürgen, additional, Schreiber, Herbert, additional, Gläser, Dieter, additional, Eagle, Michelle, additional, Bailey, Geraldine, additional, Walters, Richard, additional, Longman, Cheryl, additional, Norwood, Fiona, additional, Winer, John, additional, Muntoni, Francesco, additional, Hanna, Michael, additional, Roberts, Mark, additional, Bindoff, Laurence A., additional, Brierley, Charlotte, additional, Cooper, Robert G., additional, Cottrell, David A., additional, Davies, Nick P., additional, Gibson, Andrew, additional, Gorman, Gráinne S., additional, Hammans, Simon, additional, Jackson, Andrew P., additional, Khan, Aijaz, additional, Lane, Russell, additional, McConville, John, additional, McEntagart, Meriel, additional, Al-Memar, Ali, additional, Nixon, John, additional, Panicker, Jay, additional, Parton, Matt, additional, Petty, Richard, additional, Price, Christopher J., additional, Rakowicz, Wojtek, additional, Ray, Partha, additional, Schapira, Anthony H., additional, Swingler, Robert, additional, Turner, Chris, additional, Wagner, Kathryn R., additional, Maddison, Paul, additional, Shaw, Pamela J., additional, Straub, Volker, additional, Bushby, Kate, additional, and Lochmüller, Hanns, additional

Published
2013
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48. Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation

Author

Wagenstaller, Janine, primary, Spranger, Stephanie, additional, Lorenz-Depiereux, Bettina, additional, Kazmierczak, Bernd, additional, Nathrath, Michaela, additional, Wahl, Dagmar, additional, Heye, Babett, additional, Gläser, Dieter, additional, Liebscher, Volkmar, additional, Meitinger, Thomas, additional, and Strom, Tim M., additional

Published
2007
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49. Problems in detecting mosaic DNA methylation in Angelman syndrome

Author

Horsthemke, Bernhard, primary, Lich, Christina, additional, Buiting, Karin, additional, Achmann, Roland, additional, Aulehla-Scholz, Christa, additional, Baumer, Alessandra, additional, Bürger, Joachim, additional, Dworniczak, Bernd, additional, Gläser, Dieter, additional, Holinski-Feder, Elke, additional, Janssen, Bart, additional, Kleinle, Stephanie, additional, Kochhan, Lothar, additional, Krasemann, Ernst, additional, Kraus, Cornelia, additional, Kroisel, Peter, additional, Plendl, Hansjörg, additional, Purmann, Sabine, additional, Sander, Gabriele, additional, Skladny, Heyko, additional, Spitzer, Eva, additional, Thamm-Mücke, Barbara, additional, Varon-Mateeva, Raymonda, additional, Weinhäusel, Andreas, additional, and Weirich, Helga, additional

Published
2003
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