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1. EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Author

Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Thompson, Rachel, Tassoni, Adrian, ’t Hoen, Peter A. C., Athanasiou, Dimitrios, Baker, Suzie-Ann, Sakellariou, Paraskevi, Paliouras, Georgios, D’Angelo, Carla, Horvath, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Blacas, Laura, Jacoupy, Maxime, Eng, Catherine, Lamy, François, Plançon, Jean-Philippe, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke G. J., de Visser, Marianne, Claeys, Kristl G., Paradas, Carmen, Toscano, Antonio, Silani, Vincenzo, Gyenge, Melinda, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D., Lochmuller, Hanns, and Evangelista, Teresinha

Published
2024
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2. 2024 update: European consensus statement on gene therapy for spinal muscular atrophy

Author

Kirschner, Janbernd, Bernert, Günther, Butoianu, Nina, De Waele, Liesbeth, Fattal-Valevski, Aviva, Haberlova, Jana, Moreno, Teresa, Klein, Andrea, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, Quijano-Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F., van der Pol, W Ludo, Wallace, Sean, Zafeiriou, Dimitrios, Ziegler, Andreas, Muntoni, Francesco, and Servais, Laurent

Published
2024
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3. EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Author

European Commission, Atalaia, Antonio [0000-0002-9345-0953], Wandrei, Dagmar [0000-0002-8144-162X], Lalout, Nawel [0000-0003-3707-8373], Tassoni, Adrian [0000-0001-5392-4125], t Hoen, Peter A.C. [0000-0003-4450-3112], Sakellariou, Paraskevi [0000-0002-9091-0053], Horvàth, Rita [0000-0002-9841-170X], Mancuso, Michelangelo [0000-0003-2738-8562], van der Beek, Nadine [0000-0001-9161-3301], Kornblum, Cornelia [0000-0002-0111-7281], Kirschner, Janbernd [0000-0003-1618-7386], Pareyson, Davide [0000-0001-6854-765X], Bassez, Guillaume [0000-0002-2044-1052], Jacoupy, Maxime [0000-0003-1841-7747], Eng, Catherine [0000-0003-4318-2345], Lamy, François [0000-0001-6542-1381], Haberlova, Jana [0000-0003-2734-9715], Brusse, Esther [0000-0002-1452-2219], Hoeijmakers, Janneke [0000-0001-6940-0027], de Visser, Marianne [0000-0002-5591-7452], Claeys, Kristl [0000-0001-9937-443X], Paradas, Carmen [0000-0002-6917-2236], Silani, Vincenzo [0000-0002-7698-3854], Reviers, Evy [0000-0002-6044-5234], Hamroun, Dalil [0000-0002-4853-8227], Vroom, Elisabeth [0000-0002-3422-2782], Wilkinson, Mark D. [0000-0001-6960-357X], Lochmuller, Hanns [0000-0003-2324-8001], Evangelista, Teresinha [0000-0002-1329-9131], Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Thompson, Rachel, Tassoni, Adrian, t Hoen, Peter A.C., Athanasiou, Dimitrios, Baker, Suzie-Ann, Sakellariou, Paraskevi, Paliouras, Georgios, D'Angelo, Carla, Horvàth, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Blacas, Laura, Jacoupy, Maxime, Eng, Catherine, Lamy, François, Plançon, Jean-Philippe, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke, de Visser, Marianne, Claeys, Kristl, Paradas, Carmen, Toscano, Antonio, Silani, Vincenzo, Gyenge, Melinda, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D., Lochmuller, Hanns, Evangelista, Teresinha, European Commission, Atalaia, Antonio [0000-0002-9345-0953], Wandrei, Dagmar [0000-0002-8144-162X], Lalout, Nawel [0000-0003-3707-8373], Tassoni, Adrian [0000-0001-5392-4125], t Hoen, Peter A.C. [0000-0003-4450-3112], Sakellariou, Paraskevi [0000-0002-9091-0053], Horvàth, Rita [0000-0002-9841-170X], Mancuso, Michelangelo [0000-0003-2738-8562], van der Beek, Nadine [0000-0001-9161-3301], Kornblum, Cornelia [0000-0002-0111-7281], Kirschner, Janbernd [0000-0003-1618-7386], Pareyson, Davide [0000-0001-6854-765X], Bassez, Guillaume [0000-0002-2044-1052], Jacoupy, Maxime [0000-0003-1841-7747], Eng, Catherine [0000-0003-4318-2345], Lamy, François [0000-0001-6542-1381], Haberlova, Jana [0000-0003-2734-9715], Brusse, Esther [0000-0002-1452-2219], Hoeijmakers, Janneke [0000-0001-6940-0027], de Visser, Marianne [0000-0002-5591-7452], Claeys, Kristl [0000-0001-9937-443X], Paradas, Carmen [0000-0002-6917-2236], Silani, Vincenzo [0000-0002-7698-3854], Reviers, Evy [0000-0002-6044-5234], Hamroun, Dalil [0000-0002-4853-8227], Vroom, Elisabeth [0000-0002-3422-2782], Wilkinson, Mark D. [0000-0001-6960-357X], Lochmuller, Hanns [0000-0003-2324-8001], Evangelista, Teresinha [0000-0002-1329-9131], Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Thompson, Rachel, Tassoni, Adrian, t Hoen, Peter A.C., Athanasiou, Dimitrios, Baker, Suzie-Ann, Sakellariou, Paraskevi, Paliouras, Georgios, D'Angelo, Carla, Horvàth, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Blacas, Laura, Jacoupy, Maxime, Eng, Catherine, Lamy, François, Plançon, Jean-Philippe, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke, de Visser, Marianne, Claeys, Kristl, Paradas, Carmen, Toscano, Antonio, Silani, Vincenzo, Gyenge, Melinda, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D., Lochmuller, Hanns, and Evangelista, Teresinha

Abstract

The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, meaningful, and impactful. The consenting process covers other uses, such as research, cohort finding and trial readiness.

Published
2024

4. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

Author

Quijano-Roy, Susana, Haberlova, Jana, Castiglioni, Claudia, Vissing, John, Munell, Francina, Rivier, François, Stojkovic, Tanya, Malfatti, Edoardo, Gómez García de la Banda, Marta, Tasca, Giorgio, Costa Comellas, Laura, Benezit, Audrey, Amthor, Helge, Dabaj, Ivana, Gontijo Camelo, Clara, Laforêt, Pascal, Rendu, John, Romero, Norma B., Cavassa, Eliana, Fattori, Fabiana, Beroud, Christophe, Zídková, Jana, Leboucq, Nicolas, Løkken, Nicoline, Sanchez-Montañez, Ángel, Ortega, Ximena, Kynčl, Martin, Metay, Corinne, Gómez-Andrés, David, and Carlier, Robert Y.

Published
2022
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5. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Author

Adoukonou, Thierry, Aryani, Omid, Barisic, Nina, Bashiri, Fahad, Bastaki, Laila, Benitto, Afaf, Omran, Tawfeg Ben, Bernert, Guenther, Bertini, Enrico, Borde, Patricia, Born, Peter, Boustani, Rose-Mary, Butoianu, Nina, Castiglioni, Claudia, Catibusic, Feriha, Chan, Sophelia, Chien, Yin Hsiu, Christodoulou, Kyproula, Dejsuphong, Donniphat, Farrar, Michelle, Filip, Duma, Goemans, Nathalie, Guinhouya, Kokou, Haberlova, Jana, Hadzsiev, Kinga, Hovhannesyan, Kristine, Isohanni, Pirjo, Radovic, Nelica Ivanovic, Jacquier, David, Jalloh, Alusine, Jedrzejowska, Maria, Kandawasvika, Gwen, Kaputu, Celestin, Kawatu, Nfwama, Kernohan, Kristin, Kirschner, Jan, Klink, Barbara, Kodsy, Sherry, Kouame-Assouan, Ange-Eric, Kravljanac, Ruzica, Kreile, Madara, Litvinenko, Ivan, McMillan, Hugh, Mesa, Sandra, Mohamed, Inaam, Kanzoska, Liljana Muaremoska, Nevo, Yoram, Nguefack, Seraphin, Nkole, Kafula, O'Grady, Gina, O'Rourke, Declan, Oskoui, Maryam, Piazzon, Flavia, Poddighe, Dimitri, Prasauskiene, Audrone, Prieto, Juan, Rasmussen, Magnhild, Razafindrasata, Santara, Saha, Narayan, Saito, Kayoko, Sakadi, Foksouna, Sangare, Modibo, Schroth, Mary, Shalkevich, Leanid, Shatillo, Andriy, Suthar, Renu, Szabo, Lena, Tatishvili, Nana, Tazir, Meriem, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Mar, van der Pol, Ludo, Vazquez, Gabriel, Vlodavets, Dimitry, Wanigasinghe, Jithangi, Wilmshurst, Jo, Xiong, Hui, Zafeiriou, Dimitrios, Zamba, Eleni, Dangouloff, Tamara, Vrščaj, Eva, Servais, Laurent, and Osredkar, Damjan

Published
2021
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7. 2024 update: European consensus statement on gene therapy for spinal muscular atrophy

Author

Neurologen, Brain, Kirschner, Janbernd, Bernert, Günther, Butoianu, Nina, De Waele, Liesbeth, Fattal-Valevski, Aviva, Haberlova, Jana, Moreno, Teresa, Klein, Andrea, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, Quijano-Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F., van der Pol, W. Ludo, Wallace, Sean, Zafeiriou, Dimitrios, Ziegler, Andreas, Muntoni, Francesco, Servais, Laurent, Neurologen, Brain, Kirschner, Janbernd, Bernert, Günther, Butoianu, Nina, De Waele, Liesbeth, Fattal-Valevski, Aviva, Haberlova, Jana, Moreno, Teresa, Klein, Andrea, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, Quijano-Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F., van der Pol, W. Ludo, Wallace, Sean, Zafeiriou, Dimitrios, Ziegler, Andreas, Muntoni, Francesco, and Servais, Laurent

Published
2024

8. EURO-NMD registry:federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Author

Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Thompson, Rachel, Tassoni, Adrian, ’t Hoen, Peter A.C., Athanasiou, Dimitrios, Baker, Suzie Ann, Sakellariou, Paraskevi, Paliouras, Georgios, D’Angelo, Carla, Horvath, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Blacas, Laura, Jacoupy, Maxime, Eng, Catherine, Lamy, François, Plançon, Jean Philippe, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke G.J., de Visser, Marianne, Claeys, Kristl G., Paradas, Carmen, Toscano, Antonio, Silani, Vincenzo, Gyenge, Melinda, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D., Lochmuller, Hanns, Evangelista, Teresinha, Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Thompson, Rachel, Tassoni, Adrian, ’t Hoen, Peter A.C., Athanasiou, Dimitrios, Baker, Suzie Ann, Sakellariou, Paraskevi, Paliouras, Georgios, D’Angelo, Carla, Horvath, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Blacas, Laura, Jacoupy, Maxime, Eng, Catherine, Lamy, François, Plançon, Jean Philippe, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke G.J., de Visser, Marianne, Claeys, Kristl G., Paradas, Carmen, Toscano, Antonio, Silani, Vincenzo, Gyenge, Melinda, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D., Lochmuller, Hanns, and Evangelista, Teresinha

Abstract

Background: The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, meaningful, and impactful. The consenting process covers other uses, such as research, cohort finding and trial readiness. Results: The registry has three-layered datasets, with European Commission-mandated data elements (EU-CDEs), a set of cross-neuromuscular data elements (NMD-CDEs) and a dataset of disease-specific data elements that function modularly (DS-DEs). The registry captures clinical, neuromuscular imaging, neuromuscular histopathology, biological and genetic data and patient-reported outcomes in a computer-interpretable format using selected ontologies and classifications. The EURO-NMD registry is connected to the EURO-NMD Registry Hub through an interoperability layer. The Hub provides an entry point to other neuromuscular registries that follow the FAIR data stewardship principles and enable GDPR-compliant information exchange. Four national or disease-specific patient registries are interoperable with the EURO-NMD Registry, allowing for federated analysis across these different resources. Conclusions: Collectively, the Registry Hub brings together data that are currently siloed and fragmented to improve healthcare and advance research for neuromuscular diseases.

Published
2024

11. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Author

Barp, Andrea, Laforet, Pascal, Bello, Luca, Tasca, Giorgio, Vissing, John, Monforte, Mauro, Ricci, Enzo, Choumert, Ariane, Stojkovic, Tanya, Malfatti, Edoardo, Pegoraro, Elena, Semplicini, Claudio, Stramare, Roberto, Scheidegger, Olivier, Haberlova, Jana, Straub, Volker, Marini-Bettolo, Chiara, Løkken, Nicoline, Diaz-Manera, Jordi, Urtizberea, Jon A., Mercuri, Eugenio, Kynčl, Martin, Walter, Maggie C., and Carlier, Robert Y.

Published
2020
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12. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

Author

Baranello, Giovanni, primary, Roy, Susana Quijano, additional, Servais, Laurent, additional, Munell, Francina, additional, Molinero, Mireia Alvarez, additional, Natera de Benito, Daniel, additional, Nascimento, Andres, additional, Gomez-Andres, David, additional, Comellas, Laura Costa, additional, Exposito, Jessica, additional, Tizzano, Eduardo F., additional, Cuppen, Inge, additional, Van der Pol, Ludo, additional, Aleman, Alberto, additional, Lochmuller, Hanns, additional, McMillan, Hugh, additional, Kirschner, Janbernd, additional, Müller, Cornelia, additional, Oskoui, Maryam, additional, Masson, Riccardo, additional, Bruno, Claudio, additional, Gonorazky, Hernan D., additional, Tesi-Rocha, Carolina, additional, Yaworski, Amanda Marie, additional, Zanoteli, Edmar, additional, Mendonca, Rodrigo, additional, D'Amico, Adele, additional, Cumbo, Francesca, additional, Tosi, Michele, additional, Pane, Marika, additional, Mercuri, Eugenio, additional, Nardes, Flavia, additional, Prufer, Alexandra, additional, Arci, Brenda Klemm, additional, Pascual, Samuel Ignacio, additional, Fattal-Valevski, Aviva, additional, De Waele, Liesbeth, additional, Deconinck, Nicolas, additional, Farrar, Michelle, additional, Haberlova, Jana, additional, Gomez-Garcia de la Banda, Marta, additional, Childs, Anne-Marie, additional, Martos, Cristina, additional, Wraige, Elizabeth, additional, Gowda, Vasantha, additional, Illingworth, Marjorie, additional, Ong, Min, additional, Majundar, Anirban, additional, Hughes, Imelda, additional, Torne, Krupa, additional, Willis, Tracey, additional, Ramdas, Sithara, additional, De Goede, Christian, additional, Erbas, Yasemin, additional, Brusa, Chiara, additional, Scoto, Mariacristina, additional, and Muntoni, Francesco, additional

Published
2023
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16. Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy

Author

Guglieri, Michela, primary, Clemens, Paula R., additional, Perlman, Seth J., additional, Smith, Edward C., additional, Horrocks, Iain, additional, Finkel, Richard S., additional, Mah, Jean K., additional, Deconinck, Nicolas, additional, Goemans, Nathalie, additional, Haberlova, Jana, additional, Straub, Volker, additional, Mengle-Gaw, Laurel J., additional, Schwartz, Benjamin D., additional, Harper, Amy D., additional, Shieh, Perry B., additional, De Waele, Liesbeth, additional, Castro, Diana, additional, Yang, Michelle L., additional, Ryan, Monique M., additional, McDonald, Craig M., additional, Tulinius, Mar, additional, Webster, Richard, additional, McMillan, Hugh J., additional, Kuntz, Nancy L., additional, Rao, Vashmi K., additional, Baranello, Giovanni, additional, Spinty, Stefan, additional, Childs, Anne-Marie, additional, Sbrocchi, Annie M., additional, Selby, Kathryn A., additional, Monduy, Migvis, additional, Nevo, Yoram, additional, Vilchez-Padilla, Juan J., additional, Nascimento-Osorio, Andres, additional, Niks, Erik H., additional, de Groot, Imelda J.M., additional, Katsalouli, Marina, additional, James, Meredith K., additional, van den Anker, Johannes, additional, Damsker, Jesse M., additional, Ahmet, Alexandra, additional, Ward, Leanne M., additional, Jaros, Mark, additional, Shale, Phil, additional, Dang, Utkarsh J., additional, and Hoffman, Eric P., additional

Published
2022
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17. Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

Author

Mannil, Manoj, Solari, Alessandra, Leha, Andreas, Pelayo-Negro, Ana L., Berciano, José, Schlotter-Weigel, Beate, Walter, Maggie C., Rautenstrauss, Bernd, Schnizer, Tuuli J., Schenone, Angelo, Seeman, Pavel, Kadian, Chandini, Schreiber, Olivia, Angarita, Natalia G., Fabrizi, Gian Maria, Gemignani, Franco, Padua, Luca, Santoro, Lucio, Quattrone, Aldo, Vita, Giuseppe, Calabrese, Daniela, Young, Peter, Laurà, Matilde, Haberlová, Jana, Mazanec, Radim, Paulus, Walter, Beissbarth, Tim, Shy, Michael E., Reilly, Mary M., Pareyson, Davide, and Sereda, Michael W.

Published
2014
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18. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies:a large international cohort

Author

Quijano-Roy, Susana, Haberlova, Jana, Castiglioni, Claudia, Vissing, John, Munell, Francina, Rivier, François, Stojkovic, Tanya, Malfatti, Edoardo, Gómez García de la Banda, Marta, Tasca, Giorgio, Costa Comellas, Laura, Benezit, Audrey, Amthor, Helge, Dabaj, Ivana, Gontijo Camelo, Clara, Laforêt, Pascal, Rendu, John, Romero, Norma B., Cavassa, Eliana, Fattori, Fabiana, Beroud, Christophe, Zídková, Jana, Leboucq, Nicolas, Løkken, Nicoline, Sanchez-Montañez, Ángel, Ortega, Ximena, Kynčl, Martin, Metay, Corinne, Gómez-Andrés, David, Carlier, Robert Y., Quijano-Roy, Susana, Haberlova, Jana, Castiglioni, Claudia, Vissing, John, Munell, Francina, Rivier, François, Stojkovic, Tanya, Malfatti, Edoardo, Gómez García de la Banda, Marta, Tasca, Giorgio, Costa Comellas, Laura, Benezit, Audrey, Amthor, Helge, Dabaj, Ivana, Gontijo Camelo, Clara, Laforêt, Pascal, Rendu, John, Romero, Norma B., Cavassa, Eliana, Fattori, Fabiana, Beroud, Christophe, Zídková, Jana, Leboucq, Nicolas, Løkken, Nicoline, Sanchez-Montañez, Ángel, Ortega, Ximena, Kynčl, Martin, Metay, Corinne, Gómez-Andrés, David, and Carlier, Robert Y.

Abstract

Background: LAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies caused by mutations in the LAMA2 gene, which codes for the alpha-2 chain of laminin-211 (merosin). Diagnosis is straightforward in the classic congenital presentation with no ambulation and complete merosin deficiency in muscle biopsy, but is far more difficult in milder ambulant individuals with partial merosin deficiency. Objective: To investigate the diagnostic utility of muscle imaging in LAMA2-RD using whole-body magnetic resonance imaging (WBMRI). Results: 27 patients (2–62 years, 21–80% with acquisition of walking ability and 6 never ambulant) were included in an international collaborative study. All carried two pathogenic mutations, mostly private missense changes. An intronic variant (c.909 + 7A > G) was identified in all the Chilean cases. Three patients (two ambulant) showed intellectual disability, epilepsy, and brain structural abnormalities. WBMRI T1w sequences or T2 fat-saturated images (Dixon) revealed abnormal muscle fat replacement predominantly in subscapularis, lumbar paraspinals, gluteus minimus and medius, posterior thigh (adductor magnus, biceps femoris, hamstrings) and soleus. This involvement pattern was consistent for both ambulant and non-ambulant patients. The degree of replacement was predominantly correlated to the disease duration, rather than to the onset or the clinical severity. A “COL6-like sandwich sign” was observed in several muscles in ambulant adults, but different involvement of subscapularis, gluteus minimus, and medius changes allowed distinguishing LAMA2-RD from collagenopathies. The thigh muscles seem to be the best ones to assess disease progression. Conclusion: WBMRI in LAMA2-RD shows a homogeneous pattern of brain and muscle imaging, representing a supportive diagnostic tool.

Published
2022

19. Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Author

Bladen, Catherine L., Thompson, Rachel, Jackson, Jacqueline M., Garland, Connie, Wegel, Claire, Ambrosini, Anna, Pisano, Paolo, Walter, Maggie C., Schreiber, Olivia, Lusakowska, Anna, Jedrzejowska, Maria, Kostera-Pruszczyk, Anna, van der Pol, Ludo, Wadman, Renske I., Gredal, Ole, Karaduman, Ayse, Topaloglu, Haluk, Yilmaz, Oznur, Matyushenko, Vitaliy, Rasic, Vedrana Milic, Kosac, Ana, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Monges, Soledad, Moresco, Angelica, Chertkoff, Lilien, Chamova, Teodora, Guergueltcheva, Velina, Butoianu, Niculina, Craiu, Dana, Korngut, Lawrence, Campbell, Craig, Haberlova, Jana, Strenkova, Jana, Alejandro, Moises, Jimenez, Alatorre, Ortiz, Genaro Gabriel, Enriquez, Gracia Viviana Gonzalez, Rodrigues, Miriam, Roxburgh, Richard, Dawkins, Hugh, Youngs, Leanne, Lahdetie, Jaana, Angelkova, Natalija, Saugier-Veber, Pascal, Cuisset, Jean-Marie, Bloetzer, Clemens, Jeannet, Pierre-Yves, Klein, Andrea, Nascimento, Andres, Tizzano, Eduardo, Salgado, David, Mercuri, Eugenio, Sejersen, Thomas, Kirschner, Jan, Rafferty, Karen, Straub, Volker, Bushby, Kate, Verschuuren, Jan, Beroud, Christophe, and Lochmüller, Hanns

Published
2014
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20. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

Author

Roy, Susana Quijano, Servais, Laurent, Munell, Francina, Molinero, Mireia Alvarez, Natera de Benito, Daniel, Nascimento, Andres, Gomez-Andres, David, Comellas, Laura Costa, Exposito, Jessica, Tizzano, Eduardo F., Cuppen, Inge, Van der Pol, Ludo, Aleman, Alberto, Lochmuller, Hanns, McMillan, Hugh, Kirschner, Janbernd, Müller, Cornelia, Oskoui, Maryam, Masson, Riccardo, Bruno, Claudio, Gonorazky, Hernan D., Tesi-Rocha, Carolina, Yaworski, Amanda Marie, Zanoteli, Edmar, Mendonca, Rodrigo, D'Amico, Adele, Cumbo, Francesca, Tosi, Michele, Pane, Marika, Mercuri, Eugenio, Nardes, Flavia, Prufer, Alexandra, Arci, Brenda Klemm, Pascual, Samuel Ignacio, Fattal-Valevski, Aviva, De Waele, Liesbeth, Deconinck, Nicolas, Farrar, Michelle, Haberlova, Jana, Gomez-Garcia de la Banda, Marta, Childs, Anne-Marie, Martos, Cristina, Wraige, Elizabeth, Gowda, Vasantha, Illingworth, Marjorie, Ong, Min, Majundar, Anirban, Hughes, Imelda, Torne, Krupa, Willis, Tracey, Ramdas, Sithara, De Goede, Christian, Erbas, Yasemin, Brusa, Chiara, Scoto, Mariacristina, Muntoni, Francesco, and Baranello, Giovanni

Published
2024
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22. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Author

Safka Brozkova, Dana, Deconinck, Tine, Beth Griffin, Laurie, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R., Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A., De Jonghe, Peter, Senderek, Jan, Seeman, Pavel, and Baets, Jonathan

Published
2015
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24. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

Author

Quijano-Roy, Susana, primary, Haberlova, Jana, additional, Castiglioni, Claudia, additional, Vissing, John, additional, Munell, Francina, additional, Rivier, François, additional, Stojkovic, Tanya, additional, Malfatti, Edoardo, additional, Gómez García de la Banda, Marta, additional, Tasca, Giorgio, additional, Costa Comellas, Laura, additional, Benezit, Audrey, additional, Amthor, Helge, additional, Dabaj, Ivana, additional, Gontijo Camelo, Clara, additional, Laforêt, Pascal, additional, Rendu, John, additional, Romero, Norma B., additional, Cavassa, Eliana, additional, Fattori, Fabiana, additional, Beroud, Christophe, additional, Zídková, Jana, additional, Leboucq, Nicolas, additional, Løkken, Nicoline, additional, Sanchez-Montañez, Ángel, additional, Ortega, Ximena, additional, Kynčl, Martin, additional, Metay, Corinne, additional, Gómez-Andrés, David, additional, and Carlier, Robert Y., additional

Published
2021
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25. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Author

Dangouloff, Tamara, primary, Vrščaj, Eva, additional, Servais, Laurent, additional, Osredkar, Damjan, additional, Adoukonou, Thierry, additional, Aryani, Omid, additional, Barisic, Nina, additional, Bashiri, Fahad, additional, Bastaki, Laila, additional, Benitto, Afaf, additional, Omran, Tawfeg Ben, additional, Bernert, Guenther, additional, Bertini, Enrico, additional, Borde, Patricia, additional, Born, Peter, additional, Boustani, Rose-Mary, additional, Butoianu, Nina, additional, Castiglioni, Claudia, additional, Catibusic, Feriha, additional, Chan, Sophelia, additional, Chien, Yin Hsiu, additional, Christodoulou, Kyproula, additional, Dejsuphong, Donniphat, additional, Farrar, Michelle, additional, Filip, Duma, additional, Goemans, Nathalie, additional, Guinhouya, Kokou, additional, Haberlova, Jana, additional, Hadzsiev, Kinga, additional, Hovhannesyan, Kristine, additional, Isohanni, Pirjo, additional, Radovic, Nelica Ivanovic, additional, Jacquier, David, additional, Jalloh, Alusine, additional, Jedrzejowska, Maria, additional, Kandawasvika, Gwen, additional, Kaputu, Celestin, additional, Kawatu, Nfwama, additional, Kernohan, Kristin, additional, Kirschner, Jan, additional, Klink, Barbara, additional, Kodsy, Sherry, additional, Kouame-Assouan, Ange-Eric, additional, Kravljanac, Ruzica, additional, Kreile, Madara, additional, Litvinenko, Ivan, additional, McMillan, Hugh, additional, Mesa, Sandra, additional, Mohamed, Inaam, additional, Kanzoska, Liljana Muaremoska, additional, Nevo, Yoram, additional, Nguefack, Seraphin, additional, Nkole, Kafula, additional, O'Grady, Gina, additional, O'Rourke, Declan, additional, Oskoui, Maryam, additional, Piazzon, Flavia, additional, Poddighe, Dimitri, additional, Prasauskiene, Audrone, additional, Prieto, Juan, additional, Rasmussen, Magnhild, additional, Razafindrasata, Santara, additional, Saha, Narayan, additional, Saito, Kayoko, additional, Sakadi, Foksouna, additional, Sangare, Modibo, additional, Schroth, Mary, additional, Shalkevich, Leanid, additional, Shatillo, Andriy, additional, Suthar, Renu, additional, Szabo, Lena, additional, Tatishvili, Nana, additional, Tazir, Meriem, additional, Tizzano, Eduardo, additional, Topaloglu, Haluk, additional, Tulinius, Mar, additional, van der Pol, Ludo, additional, Vazquez, Gabriel, additional, Vlodavets, Dimitry, additional, Wanigasinghe, Jithangi, additional, Wilmshurst, Jo, additional, Xiong, Hui, additional, Zafeiriou, Dimitrios, additional, and Zamba, Eleni, additional

Published
2021
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26. genetic diagnosis; limb-girdle weakness; neuromuscular disease; next-generation sequencing; targeted exome analysisweakness

Author

Töpf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R., England, Eleina M., Laricchia, Kristen M., Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasús, Ana B., Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G., Akay, Ela, Alonso-Pérez, Jorge, Baets, Jonathan, Barisic, Nina, Bastian, Alexandra, Borell, Sabine, Chamova, Teodora, Claeys, Kristl, Colomer, Jaume, Coppens, Sandra, Deconinck, Nicolas, de Ridder, Willem, Díaz-Manera, Jordi, Domínguez-González, Cristina, Duncan, Alexis, Durmus, Hacer, Fahmy, Nagia A., Farrugia, Maria Elena, Fernández-Torrón, Roberto, Gonzalez- Quereda, Lidia, Haberlova, Jana, von der Hagen, Maja, Hahn, Andreas, Jakovčević, Antonia, Jerico Pascual, Ivonne, Kapetanovic, Solange, Kenina, Viktorija, Kirschner, Janbernd, Klein, Andrea, Kölbel, Heike, Kostera-Pruszczyk, Anna, Kulshrestha, Richa, Lähdetie, Jaana, Layegh, Mahsa, Longman, Cheryl, López de Munain, Adolfo, Loscher, Wolfgang, Lusakowska, Anna, Maddison, Paul, Magot, Armelle, Majumdar, Anirban, Martí, Pilar, Martínez Arroyo, Amaia, Mazanec, Radim, Mercier, Sandra, Mongini, Tiziana, Muelas, Nuria, Nascimento, Andrés, Nafissi, Shahriar, Omidi, Shirin, Ortez, Carlos, Paquay, Stéphanie, Pereon, Yann, Perić, Stojan, Ponzalino, Valentina, Rakočević Stojanović, Vidosava, Remiche, Gauthier, Rodríguez Sainz, Aida, Rudnik, Sabine, Sanchez Albisua, Iciar, Santos, Manuela, Schara, Ulrike, Shatillo, Andriy, Sertić, Jadranka, Stephani, Ulrich, Strang- Karlsson, Sonja, Sznajer, Yves, Tanev, Ani, Tournev, Ivailo, Van den Bergh, Peter, Van Parijs, Vinciane, Vílchez, Juan, Vill, Katharina, Vissing, John, Wallgren-Pettersson, Carina, Wanschitz, Julia, Willis, Tracey, Witting, Nanna, Zulaica, Miren, and Straub, Volker

Subjects
genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, targeted exome analysis
Abstract

Purpose: Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology. Methods: Exome sequencing was applied to 1001 undiagnosed patients recruited from more than 40 neuromuscular disease referral centers ; standardized phenotypic information was collected for each patient. Exomes were examined for variants in 429 genes associated with muscle conditions. Results: We identified suspected pathogenic variants in 52% of patients across 87 genes. We detected 401 novel variants, 116 of which were recurrent. Variants in CAPN3, DYSF, ANO5, DMD, RYR1, TTN, COL6A2, and SGCA collectively accounted for over half of the solved cases ; while variants in newer disease genes, such as BVES and POGLUT1, were also found. The remaining well-characterized unsolved patients (48%) need further investigation. Conclusion: Using our unique infrastructure, we developed a pathway to expedite muscle disease diagnoses. Our data suggest that exome sequencing should be used for pathogenic variant detection in patients with suspected genetic muscle diseases, focusing first on the most common disease genes described here, and subsequently in rarer and newly characterized disease genes. .

Published
2020

27. Response to letter: A decision for life – Treatment decisions in newly diagnosed families with spinal muscular atrophy

Author

Kirschner, Janbernd, primary, Butoianu, Nina, additional, Goemans, Nathalie, additional, Haberlova, Jana, additional, Kostera-Pruszczyk, Anna, additional, Mercuri, Eugenio, additional, van der Pol, W.Ludo, additional, Quijano-Roy, Susana, additional, Sejersen, Thomas, additional, Tizzano, Eduardo F., additional, Ziegler, Andreas, additional, Servais, Laurent, additional, and Muntoni, Francesco, additional

Published
2021
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28. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Author

Töpf, Ana, primary, Johnson, Katherine, additional, Bates, Adam, additional, Phillips, Lauren, additional, Chao, Katherine R., additional, England, Eleina M., additional, Laricchia, Kristen M., additional, Mullen, Thomas, additional, Valkanas, Elise, additional, Xu, Liwen, additional, Bertoli, Marta, additional, Blain, Alison, additional, Casasús, Ana B., additional, Duff, Jennifer, additional, Mroczek, Magdalena, additional, Specht, Sabine, additional, Lek, Monkol, additional, Ensini, Monica, additional, MacArthur, Daniel G., additional, Akay, Ela, additional, Alonso-Pérez, Jorge, additional, Baets, Jonathan, additional, Barisic, Nina, additional, Bastian, Alexandra, additional, Borell, Sabine, additional, Chamova, Teodora, additional, Claeys, Kristl, additional, Colomer, Jaume, additional, Coppens, Sandra, additional, Deconinck, Nicolas, additional, de Ridder, Willem, additional, Díaz-Manera, Jordi, additional, Domínguez-González, Cristina, additional, Duncan, Alexis, additional, Durmus, Hacer, additional, Fahmy, Nagia A., additional, Farrugia, Maria Elena, additional, Fernández-Torrón, Roberto, additional, Gonzalez-Quereda, Lidia, additional, Haberlova, Jana, additional, von der Hagen, Maja, additional, Hahn, Andreas, additional, Jakovčević, Antonia, additional, Jerico Pascual, Ivonne, additional, Kapetanovic, Solange, additional, Kenina, Viktorija, additional, Kirschner, Janbernd, additional, Klein, Andrea, additional, Kölbel, Heike, additional, Kostera-Pruszczyk, Anna, additional, Kulshrestha, Richa, additional, Lähdetie, Jaana, additional, Layegh, Mahsa, additional, Longman, Cheryl, additional, López de Munain, Adolfo, additional, Loscher, Wolfgang, additional, Lusakowska, Anna, additional, Maddison, Paul, additional, Magot, Armelle, additional, Majumdar, Anirban, additional, Martí, Pilar, additional, Martínez Arroyo, Amaia, additional, Mazanec, Radim, additional, Mercier, Sandra, additional, Mongini, Tiziana, additional, Muelas, Nuria, additional, Nascimento, Andrés, additional, Nafissi, Shahriar, additional, Omidi, Shirin, additional, Ortez, Carlos, additional, Paquay, Stéphanie, additional, Pereon, Yann, additional, Perić, Stojan, additional, Ponzalino, Valentina, additional, Rakočević Stojanović, Vidosava, additional, Remiche, Gauthier, additional, Rodríguez Sainz, Aida, additional, Rudnik, Sabine, additional, Sanchez Albisua, Iciar, additional, Santos, Manuela, additional, Schara, Ulrike, additional, Shatillo, Andriy, additional, Sertić, Jadranka, additional, Stephani, Ulrich, additional, Strang-Karlsson, Sonja, additional, Sznajer, Yves, additional, Tanev, Ani, additional, Tournev, Ivailo, additional, Van den Bergh, Peter, additional, Van Parijs, Vinciane, additional, Vílchez, Juan, additional, Vill, Katharina, additional, Vissing, John, additional, Wallgren-Pettersson, Carina, additional, Wanschitz, Julia, additional, Willis, Tracey, additional, Witting, Nanna, additional, Zulaica, Miren, additional, and Straub, Volker, additional

Published
2020
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29. Hereditary Spastic Paraplegia 3A Associated With Axonal Neuropathy

Author

Ivanova, Neviana, Claeys, Kristl G., Deconinck, Tine, Litvinenko, Ivan, Jordanova, Albena, Auer-Grumbach, Michaela, Haberlova, Jana, Löfgren, Ann, Smeyers, Gisele, Nelis, Eva, Mercelis, Rudy, Plecko, Barbara, Priller, Josef, Zámečník, Josef, Ceulemans, Berten, Erichsen, Anne Kjersti, Björck, Erik, Nicholson, Garth, Sereda, Michael W., Seeman, Pavel, Kremensky, Ivo, Mitev, Vanio, and De Jonghe, Peter

Published
2007

30. Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen

Author

Aragon-Gawinska, Karolina, Daron, Aurore, Ulinici, Ana, Vanden Brande, Laura, Seferian, Andreea Mihaela, Gidaro, Teresa, Scoto, Mariacristina, Deconinck, Nicolas, Servais, Laurent, Benezit, Audrey, Mathieu, Marie Laure, Cances, Claude, Durigneux, Julien, Ropars, Juliette, Chouchane, Mondher, Forey, Peggy, Lazaro, Leïla, Hughes, Imelda, Illingworth, Marjorie, Marini-Bettolo, Chiara, Cuppen, Inge, Modrzejewska, Sandra, Balintova, Zdenka, Haberlova, Jana, Drimtzia, Kate, Blaschek, Astrid, Ambegankoar, Gautam, Annoussamy, Mélanie, Aragon-Gawinska, Karolina, Daron, Aurore, Ulinici, Ana, Vanden Brande, Laura, Seferian, Andreea Mihaela, Gidaro, Teresa, Scoto, Mariacristina, Deconinck, Nicolas, Servais, Laurent, Benezit, Audrey, Mathieu, Marie Laure, Cances, Claude, Durigneux, Julien, Ropars, Juliette, Chouchane, Mondher, Forey, Peggy, Lazaro, Leïla, Hughes, Imelda, Illingworth, Marjorie, Marini-Bettolo, Chiara, Cuppen, Inge, Modrzejewska, Sandra, Balintova, Zdenka, Haberlova, Jana, Drimtzia, Kate, Blaschek, Astrid, Ambegankoar, Gautam, and Annoussamy, Mélanie

Abstract

Aim: To determine factors associated with acquisition of a sitting position in patients with spinal muscular atrophy type 1 (SMA1) treated with nusinersen. Method: Using data from the registry of patients with SMA1 treated with nusinersen, we compared the subgroups of sitters and non-sitters after 14 months of therapy as a function of baseline level, SMN2 copy number, age at treatment initiation, and improvement at 2 and 6 months post-treatment initiation. We used Hammersmith Infant Neurological Examination, Section 2 (HINE-2) and Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders for motor evaluation. Results: Fifty children (22 females, 28 males), mean age 22 months (SD 20.7; range 2.5–102.8mo) were treated. Data on sitting position acquisition were collected for 47 patients at month 14. Fifteen patients were able to sit unassisted; 11 of 15 had a baseline HINE-2 score of at least 2 points and 11 of 14 had an improvement over baseline of at least 2 points at month 6. Patients who improved by 2 or more points at month 6 were three times more likely to be sitters at month 14 than those who did not. Interpretation: High baseline motor function and improvement in HINE-2 score after 6 months of treatment are associated with the probability of acquiring a sitting position in patients with SMA1 treated with nusinersen. What this paper adds: Fifteen of 47 patients with spinal muscular atrophy could sit unaided 14 months after treatment with nusinersen. The number of SMN2 copies were not predictive of acquisition of a sitting position. Baseline condition and clinical response after 6 months of treatment were most predictive of sitting position acquisition., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2019

31. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Author

Barp, Andrea, primary, Laforet, Pascal, additional, Bello, Luca, additional, Tasca, Giorgio, additional, Vissing, John, additional, Monforte, Mauro, additional, Ricci, Enzo, additional, Choumert, Ariane, additional, Stojkovic, Tanya, additional, Malfatti, Edoardo, additional, Pegoraro, Elena, additional, Semplicini, Claudio, additional, Stramare, Roberto, additional, Scheidegger, Olivier, additional, Haberlova, Jana, additional, Straub, Volker, additional, Marini-Bettolo, Chiara, additional, Løkken, Nicoline, additional, Diaz-Manera, Jordi, additional, Urtizberea, Jon A., additional, Mercuri, Eugenio, additional, Kynčl, Martin, additional, Walter, Maggie C., additional, and Carlier, Robert Y., additional

Published
2019
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33. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Author

Lassuthova, Petra, primary, Rebelo, Adriana P., additional, Ravenscroft, Gianina, additional, Lamont, Phillipa J., additional, Davis, Mark R., additional, Manganelli, Fiore, additional, Feely, Shawna M., additional, Bacon, Chelsea, additional, Brožková, Dana Šafka, additional, Haberlova, Jana, additional, Mazanec, Radim, additional, Tao, Feifei, additional, Saghira, Cima, additional, Abreu, Lisa, additional, Courel, Steve, additional, Powell, Eric, additional, Buglo, Elena, additional, Bis, Dana M., additional, Baxter, Megan F., additional, Ong, Royston W., additional, Marns, Lorna, additional, Lee, Yi-Chung, additional, Bai, Yunhong, additional, Isom, Daniel G., additional, Barro-Soria, René, additional, Chung, Ki W., additional, Scherer, Steven S., additional, Larsson, H. Peter, additional, Laing, Nigel G., additional, Choi, Byung-Ok, additional, Seeman, Pavel, additional, Shy, Michael E., additional, Santoro, Lucio, additional, and Zuchner, Stephan, additional

Published
2018
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34. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Author

Safka Brozkova, Dana, Deconinck, Tine, Beth Griffin, Laurie, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R., Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A., De Jonghe, Peter, Senderek, Jan, Seeman, Pavel, Baets, Jonathan, Safka Brozkova, Dana, Deconinck, Tine, Beth Griffin, Laurie, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R., Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A., De Jonghe, Peter, Senderek, Jan, Seeman, Pavel, and Baets, Jonathan

Abstract

Using linkage analysis and whole-exome sequencing, Safka Brozkova et al. reveal missense mutations in the histidyl-tRNA synthetase gene in 23 patients from four families with axonal and demyelinating neuropathies of varying severity. The mutations cause loss of function in yeast complementation assays and neurotoxicity in a C. elegans model

Published
2017

35. Loss of function mutations inHARScause a spectrum of inherited peripheral neuropathies

Author

Safka Brozkova, Dana, primary, Deconinck, Tine, additional, Beth Griffin, Laurie, additional, Ferbert, Andreas, additional, Haberlova, Jana, additional, Mazanec, Radim, additional, Lassuthova, Petra, additional, Roth, Christian, additional, Pilunthanakul, Thanita, additional, Rautenstrauss, Bernd, additional, Janecke, Andreas R., additional, Zavadakova, Petra, additional, Chrast, Roman, additional, Rivolta, Carlo, additional, Zuchner, Stephan, additional, Antonellis, Anthony, additional, Beg, Asim A., additional, De Jonghe, Peter, additional, Senderek, Jan, additional, Seeman, Pavel, additional, and Baets, Jonathan, additional

Published
2015
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37. Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Author

Bladen, Catherine L., primary, Thompson, Rachel, additional, Jackson, Jacqueline M., additional, Garland, Connie, additional, Wegel, Claire, additional, Ambrosini, Anna, additional, Pisano, Paolo, additional, Walter, Maggie C., additional, Schreiber, Olivia, additional, Lusakowska, Anna, additional, Jedrzejowska, Maria, additional, Kostera-Pruszczyk, Anna, additional, van der Pol, Ludo, additional, Wadman, Renske I., additional, Gredal, Ole, additional, Karaduman, Ayse, additional, Topaloglu, Haluk, additional, Yilmaz, Oznur, additional, Matyushenko, Vitaliy, additional, Rasic, Vedrana Milic, additional, Kosac, Ana, additional, Karcagi, Veronika, additional, Garami, Marta, additional, Herczegfalvi, Agnes, additional, Monges, Soledad, additional, Moresco, Angelica, additional, Chertkoff, Lilien, additional, Chamova, Teodora, additional, Guergueltcheva, Velina, additional, Butoianu, Niculina, additional, Craiu, Dana, additional, Korngut, Lawrence, additional, Campbell, Craig, additional, Haberlova, Jana, additional, Strenkova, Jana, additional, Alejandro, Moises, additional, Jimenez, Alatorre, additional, Ortiz, Genaro Gabriel, additional, Enriquez, Gracia Viviana Gonzalez, additional, Rodrigues, Miriam, additional, Roxburgh, Richard, additional, Dawkins, Hugh, additional, Youngs, Leanne, additional, Lahdetie, Jaana, additional, Angelkova, Natalija, additional, Saugier-Veber, Pascal, additional, Cuisset, Jean-Marie, additional, Bloetzer, Clemens, additional, Jeannet, Pierre-Yves, additional, Klein, Andrea, additional, Nascimento, Andres, additional, Tizzano, Eduardo, additional, Salgado, David, additional, Mercuri, Eugenio, additional, Sejersen, Thomas, additional, Kirschner, Jan, additional, Rafferty, Karen, additional, Straub, Volker, additional, Bushby, Kate, additional, Verschuuren, Jan, additional, Beroud, Christophe, additional, and Lochmüller, Hanns, additional

Published
2013
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38. HomozygousEXOSC3Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma

Author

Schwabova, Jaroslava, primary, Brozkova, Dana Safka, additional, Petrak, Borivoj, additional, Mojzisova, Mahulena, additional, Pavlickova, Klara, additional, Haberlova, Jana, additional, Mrazkova, Lenka, additional, Hedvicakova, Petra, additional, Hornofova, Ludmila, additional, Kaluzova, Marie, additional, Fencl, Filip, additional, Krutova, Marcela, additional, Zamecnik, Josef, additional, and Seeman, Pavel, additional

Published
2013
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39. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Author

Brozkova, Dana Safka, Deconinck, Tine, Griffin, Laurie Beth, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R., Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A., De Jonghe, Peter, Senderek, Jan, and Seeman, Pavel

Abstract

Inherited peripheral neuropathies are a genetically heterogeneous group of disorders characterized by distal muscle weakness and sensory loss. Mutations in genes encoding aminoacyl-tRNA synthetases have been implicated in peripheral neuropathies, suggesting that these tRNA charging enzymes are uniquely important for the peripheral nerve. Recently, a mutation in histidyl-tRNA synthetase (HARS) was identified in a single patient with a late-onset, sensory-predominant peripheral neuropathy; however, the genetic evidence was lacking, making the significance of the finding unclear. Here, we present clinical, genetic, and functional data that implicate HARS mutations in inherited peripheral neuropathies. The associated phenotypic spectrum is broad and encompasses axonal and demyelinating motor and sensory neuropathies, including four young patients presenting with pure motor axonal neuropathy. Genome-wide linkage studies in combination with whole-exome and conventional sequencing revealed four distinct and previously unreported heterozygous HARS mutations segregating with autosomal dominant peripheral neuropathy in four unrelated families (p.Thr132Ile, p.Pro134His, p.Asp175Glu and p.Asp364Tyr). All mutations cause a loss of function in yeast complementation assays, and p.Asp364Tyr is dominantly neurotoxic in a Caenorhabditis elegans model. This study demonstrates the role of HARS mutations in peripheral neuropathy and expands the genetic and clinical spectrum of aminoacyl-tRNA synthetase-related human disease. [ABSTRACT FROM AUTHOR]

Published
2015
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40. SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

Author

Bennett, Craig L., primary, Shirk, Andrew J., additional, Huynh, Huy M., additional, Street, Valerie A., additional, Nelis, Eva, additional, Van Maldergem, Lionel, additional, De Jonghe, Peter, additional, Jordanova, Albena, additional, Guergueltcheva, Velina, additional, Tournev, Ivailo, additional, Van den Bergh, Peter, additional, Seeman, Pavel, additional, Mazanec, Radim, additional, Prochazka, Tomas, additional, Kremensky, Ivo, additional, Haberlova, Jana, additional, Weiss, Michael D., additional, Timmerman, Vincent, additional, Bird, Thomas D., additional, and Chance, Phillip F., additional

Published
2004
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41. Homozygous EXOSC3 Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma.

Author

Schwabova, Jaroslava, Brozkova, Dana Safka, Petrak, Borivoj, Mojzisova, Mahulena, Pavlickova, Klara, Haberlova, Jana, Mrazkova, Lenka, Hedvicakova, Petra, Hornofova, Ludmila, Kaluzova, Marie, Fencl, Filip, Krutova, Marcela, Zamecnik, Josef, and Seeman, Pavel

Subjects
GENETIC mutation, NEURODEGENERATION, GENETIC disorders, HEALTH of Romanies, SPINAL muscular atrophy, CEREBELLUM degeneration, GENETICS
Abstract

Pontocerebellar hypoplasia type 1 (PCH1) is characterized by cerebellar and anterior horn motor neuron degeneration and loss, signs of spinal muscular atrophy plus. Patients manifest severe perinatal weakness, hypotonia, and respiratory insufficiency, causing death frequently before the age of 1 year. Recently, causative mutations in EXOSC3 were reported in a majority of PCH1 patients, but the detailed clinical phenotype caused by EXOSC3 mutations, genotype-phenotype correlations, and prevalent mutations in specific ethnic groups is not yet known. Three unrelated Czech Roma patients with PCH1 were investigated clinically, electrophysiologically, neuroradiologically, and neuropathologically (patients 1 and 2). The entire coding region of the EXOSC3 gene, including the adjacent intron sequences, was sequenced in all three patients. The same mutation c.92G→C, p.G31A in EXOSC3 was found in all three affected patients in homozygous state and in heterozygous state in the parents from two of the families. Haplotype analysis with four flanking microsatellite markers showed identical haplotype in 9 out of 11 haplotypes carrying the c.92G→C, p.G31A mutation. Furthermore, four heterozygotes for this mutation were found in anonymous DNA samples from 90 unrelated Roma individuals. All four of these samples shared the same haplotype. No heterozygous sample was found among 120 anonymous DNA samples from Czech non-Roma individuals with no familial relation. It may therefore be concluded that EXOSC3 c.92G→C, p.G31A mutation is a founder mutation with high prevalence among the Czech Roma causing a similar and particularly severe phenotype of PCH1. These observations from the Czech Roma may have consequences also for other Roma from other countries. PCH1 caused by EXOSC3 founder mutation c.92G→C, p.G31A extends the list of autosomal recessive disorders rare among the general population but more frequent among Roma at least in the Czech Republic. [ABSTRACT FROM AUTHOR]

Published
2013
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42. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Author

Safka Brozkova, Dana, Deconinck, Tine, Beth Griffin, Laurie, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R., Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A., De Jonghe, Peter, Senderek, Jan, Seeman, Pavel, Baets, Jonathan, Safka Brozkova, Dana, Deconinck, Tine, Beth Griffin, Laurie, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R., Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A., De Jonghe, Peter, Senderek, Jan, Seeman, Pavel, and Baets, Jonathan

Abstract

Using linkage analysis and whole-exome sequencing, Safka Brozkova et al. reveal missense mutations in the histidyl-tRNA synthetase gene in 23 patients from four families with axonal and demyelinating neuropathies of varying severity. The mutations cause loss of function in yeast complementation assays and neurotoxicity in a C. elegans model

43. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Author

Dana Šafka Brožková, Rene Barro-Soria, H. Peter Larsson, Petra Laššuthová, Shawna M. E. Feely, Pavel Seeman, Eric Powell, Yi-Chung Lee, Elena Buglo, Daniel G. Isom, Cima Saghira, Feifei Tao, Royston Ong, Yunhong Bai, Steven S. Scherer, Lorna Marns, Chelsea Bacon, Gianina Ravenscroft, Megan F. Baxter, Lisa Abreu, Stephan Züchner, Jana Haberlová, Phillipa J. Lamont, Adriana P. Rebelo, Fiore Manganelli, Mark R. Davis, Lucio Santoro, Steve Courel, Ki Wha Chung, Dana M. Bis, Radim Mazanec, Michael E. Shy, Byung Ok Choi, Nigel G. Laing, Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, and Zuchner, Stephan

Subjects
Adult, Male, 0301 basic medicine, Charcot-Marie-Tooth, axonal neuropathy, Protein subunit, Mutant, Xenopus, Biology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genetic, Charcot-Marie-Tooth Disease, Report, Genetics, Humans, Missense mutation, Family, Amino Acid Sequence, Na+,K+ATPase, Na+/K+-ATPase, Child, Gene, Genetics (clinical), Aged, Genes, Dominant, Aged, 80 and over, CMT, genetic matchmaking, ATP1A1, Middle Aged, biology.organism_classification, Molecular biology, Axolemma, Pedigree, 030104 developmental biology, Mutation, Female, Mendelian disease, Sodium-Potassium-Exchanging ATPase, 030217 neurology & neurosurgery, Immunostaining
Abstract

Although mutations in more than 90 genes are known to cause CMT, the underlying genetic cause of CMT remains unknown in more than 50% of affected individuals. The discovery of additional genes that harbor CMT2-causing mutations increasingly depends on sharing sequence data on a global level. In this way—by combining data from seven countries on four continents—we were able to define mutations in ATP1A1, which encodes the alpha1 subunit of the Na+,K+-ATPase, as a cause of autosomal-dominant CMT2. Seven missense changes were identified that segregated within individual pedigrees: c.143T>G (p.Leu48Arg), c.1775T>C (p.Ile592Thr), c.1789G>A (p.Ala597Thr), c.1801_1802delinsTT (p.Asp601Phe), c.1798C>G (p.Pro600Ala), c.1798C>A (p.Pro600Thr), and c.2432A>C (p.Asp811Ala). Immunostaining peripheral nerve axons localized ATP1A1 to the axolemma of myelinated sensory and motor axons and to Schmidt-Lanterman incisures of myelin sheaths. Two-electrode voltage clamp measurements on Xenopus oocytes demonstrated significant reduction in Na+ current activity in some, but not all, ouabain-insensitive ATP1A1 mutants, suggesting a loss-of-function defect of the Na+,K+ pump. Five mutants fall into a remarkably narrow motif within the helical linker region that couples the nucleotide-binding and phosphorylation domains. These findings identify a CMT pathway and a potential target for therapy development in degenerative diseases of peripheral nerve axons.

Published
2018
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