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Select item 119099581.

Zebrafish and cellular models of SELENON-Congenital myopathy exhibit novel embryonic and metabolic phenotypes

Pamela Barraza-Flores, Behzad Moghadaszadeh, Won Lee, Biju Isaac, Liang Sun, Emily T. Hickey, Shira Rockowitz, Piotr Sliz, Alan H. Beggs

Skelet Muscle. 2025; 15: 7. Published online 2025 Mar 15. doi: 10.1186/s13395-025-00376-4

PMCID:: PMC11909958

Article PDF–4.4M

Select item 115157042.

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study

E. C. M. de Laat, S.L.S. Houwen- van Opstal, K. Bouman, J. L. M. van Doorn, D. Cameron, N. van Alfen, A. T. M. Dittrich, E. J. Kamsteeg, H. J. M. Smeets, J. T. Groothuis, C. E. Erasmus, Nicol C. Voermans

BMC Neurol. 2024; 24: 409. Published online 2024 Oct 23. doi: 10.1186/s12883-024-03852-4

Correction in:: BMC Neurol. 2024; 24: 477.

PMCID:: PMC11515704

Article PDF–1.4M

Select item 113802863.

Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series

Karlijn Bouman, Frederik M.A. van den Heuvel, Reinder Evertz, Ewout Boesaard, Jan T. Groothuis, Baziel G.M. van Engelen, Robin Nijveldt, Corrie E. Erasmus, Floris E.A. Udink ten Cate, Nicol C. Voermans

J Neuromuscul Dis. 2024; 11(5): 919–934. Prepublished online 2024 Aug 16. Published online 2024 Sep 3. doi: 10.3233/JND-230190

PMCID:: PMC11380286

Article PDF–876K

Select item 113802504.

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit

Kristina Kastreva, Teodora Chamova, Stanislava Blagoeva, Stoyan Bichev, Violeta Mihaylova, Stefanie Meyer, Rachel Thompson, Sylvia Cherninkova, Velina Guergueltcheva, Hanns Lochmuller, Ivailo Tournev

J Neuromuscul Dis. 2024; 11(5): 1011–1020. Prepublished online 2024 Jul 4. Published online 2024 Sep 3. doi: 10.3233/JND-230235

PMCID:: PMC11380250

Article PDF–193K

Select item 111785295.

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes

Nunziata Maio, Rotem Orbach, Irina T. Zaharieva, Ana Töpf, Sandra Donkervoort, Pinki Munot, Juliane Mueller, Tracey Willis, Sumit Verma, Stojan Peric, Deepa Krishnakumar, Sniya Sudhakar, A. Reghan Foley, Sarah Silverstein, Ganka Douglas, Lynn Pais, Stephanie DiTroia, Christopher Grunseich, Ying Hu, Caroline Sewry, Anna Sarkozy, Volker Straub, Francesco Muntoni, Tracey A. Rouault, Carsten G. Bönnemann

J Clin Invest. 2024 Jun 17; 134(12): e179559. Published online 2024 Jun 17. doi: 10.1172/JCI179559

PMCID:: PMC11178529

Article PDF–12M

Select item 109251216.

Zebrafish and cellular models of SELENON-Related Myopathy exhibit novel embryonic and metabolic phenotypes

Pamela Barraza-Flores, Behzad Moghadaszadeh, Won Lee, Biju Isaac, Liang Sun, Emily C. Troiano, Shira Rockowitz, Piotr Sliz, Alan H. Beggs

Version 1. bioRxiv. Preprint. 2024 Feb 26. doi: 10.1101/2024.02.26.581979

Published in:: Skelet Muscle. 2025; 15: 7.

PMCID:: PMC10925121

Article PDF–8.2M

Select item 107782217.

Successful Emergency Management of a Dog with Ventilator-Dependent Acquired Myasthenia Gravis with Immunoadsorption

Florian Sänger, Stefanie Dörfelt, Bettina Giani, Gesine Buhmann, Andrea Fischer, René Dörfelt

Animals (Basel) 2024 Jan; 14(1): 33. Published online 2023 Dec 21. doi: 10.3390/ani14010033

PMCID:: PMC10778221

Article PDF–1.3M

Select item 107754058.

Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes

Nunziata Maio, Rotem Orbach, Irina Zaharieva, Ana Töpf, Sandra Donkervoort, Pinki Munot, Juliane Mueller, Tracey Willis, Sumit Verma, Stojan Peric, Deepa Krishnakumar, Sniya Sudhakar, Aileen Reghan Foley, Sarah Silverstein, Ganka Douglas, Lynn Pais, Stephanie DiTroia, Christopher Grunseich, Ying Hu, Caroline Sewry, Anna Sarkozy, Volker Straub, Francesco Muntoni, Tracey Rouault, Carsten Gerhart Bönnemann

Version 1. medRxiv. Preprint. 2023 Dec 20. doi: 10.1101/2023.12.20.23300170

Published in:: J Clin Invest. 2024 Jun 17; 134(12): e179559.

PMCID:: PMC10775405

Article

Select item 106576849.

Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E.A. Udink ten Cate, Frederik M.A. van den Heuvel, Robin Nijveldt, Erik-Jan Kamsteeg, Anne T.M. Dittrich, Jos M.T. Draaisma, Mirian C.H. Janssen, Baziel G.M. van Engelen, Corrie E. Erasmus, Nicol C. Voermans

J Neuromuscul Dis. 2023; 10(6): 1055–1074. Prepublished online 2023 Sep 30. Published online 2023 Nov 7. doi: 10.3233/JND-221673

PMCID:: PMC10657684

Article PDF–569K

Select item 1035613310.

Neurol Genet. 2023 Oct; 9(5): e200089. Published online 2023 Jul 19. doi: 10.1212/NXG.0000000000200089

PMCID:: PMC10356133

Article PDF–436K

Select item 935438111.

Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature

Youssef El Kadiri, Ilham Ratbi, Abdelaziz Sefiani, Jaber Lyahyai

BMC Neurol. 2022; 22: 292. Published online 2022 Aug 5. doi: 10.1186/s12883-022-02822-y

PMCID:: PMC9354381

Article PDF–3.8M

Select item 859906412.

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay

Irena J J Muffels, Elsa Wiame, Sabine A Fuchs, Maarten P G Massink, Holger Rehmann, Jiska L I Musch, Gijs Van Haaften, Didier Vertommen, Emile van Schaftingen, Peter M van Hasselt

Brain Commun. 2021; 3(4): fcab256. Published online 2021 Oct 26. doi: 10.1093/braincomms/fcab256

PMCID:: PMC8599064

Article PDF–941K

Select item 841209113.

Inflammatory features in sporadic late‐onset nemaline myopathy are independent from monoclonal gammopathy

Jantima Tanboon, Akinori Uruha, Yukie Arahata, Carsten Dittmayer, Leonille Schweizer, Hans‐Hilmar Goebel, Ichizo Nishino, Werner Stenzel

Brain Pathol. 2021 May; 31(3): e12962. Published online 2021 May 27. doi: 10.1111/bpa.12962

PMCID:: PMC8412091

Article PDF–1.1M

Select item 800115214.

Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease

Manuela Moriggi, Daniele Capitanio, Enrica Torretta, Pietro Barbacini, Cinzia Bragato, Patrizia Sartori, Maurizio Moggio, Lorenzo Maggi, Marina Mora, Cecilia Gelfi

Int J Mol Sci. 2021 Mar; 22(6): 2850. Published online 2021 Mar 11. doi: 10.3390/ijms22062850

PMCID:: PMC8001152

Article PDF–28M

Select item 771374215.

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series

Rocio N. Villar-Quiles, Maja von der Hagen, Corinne Métay, Victoria Gonzalez, Sandra Donkervoort, Enrico Bertini, Claudia Castiglioni, Denys Chaigne, Jaume Colomer, Maria Luz Cuadrado, Marianne de Visser, Isabelle Desguerre, Bruno Eymard, Nathalie Goemans, Angela Kaindl, Emmanuelle Lagrue, Jürg Lütschg, Edoardo Malfatti, Michèle Mayer, Luciano Merlini, David Orlikowski, Ulrike Reuner, Mustafa A. Salih, Beate Schlotter-Weigel, Mechthild Stoetter, Volker Straub, Haluk Topaloglu, J. Andoni Urtizberea, Anneke van der Kooi, Ekkehard Wilichowski, Norma B. Romero, Michel Fardeau, Carsten G. Bönnemann, Brigitte Estournet, Pascale Richard, Susana Quijano-Roy, Ulrike Schara, Ana Ferreiro

Neurology. 2020 Sep 15; 95(11): e1512–e1527. doi: 10.1212/WNL.0000000000010327

PMCID:: PMC7713742

Article PDF–1.2M

Select item 748876016.

Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients

J. J. A. van den Dorpel, E. Poelman, L. Harlaar, H. A. van Kooten, L. J. van der Giessen, P. A. van Doorn, A. T. van der Ploeg, J. M. P. van den Hout, N. A. M. E. van der Beek

Orphanet J Rare Dis. 2020; 15: 247. Published online 2020 Sep 14. doi: 10.1186/s13023-020-01482-w

PMCID:: PMC7488760

Article PDF–2.0M

Select item 664293817.

Multisystem late onset Pompe disease (LOPD): an update on clinical aspects

Antonio Toscano, Carmelo Rodolico, Olimpia Musumeci

Ann Transl Med. 2019 Jul; 7(13): 284. doi: 10.21037/atm.2019.07.24

PMCID:: PMC6642938

Article PDF–1010K

Select item 522021218.

Clinical Features of Neuromuscular Disorders in Patients with N-Type Voltage-Gated Calcium Channel Antibodies

Andreas Totzeck, Petra Mummel, Oliver Kastrup, Tim Hagenacker

Eur J Transl Myol. 2016 Dec 15; 26(4): 5962. Published online 2016 Dec 15. doi: 10.4081/ejtm.2016.5962

PMCID:: PMC5220212

Article PDF–324K

Select item 476292619.

Anna Kostera-Pruszczyk, Małgorzata Suszek, Rafał Płoski, Maria Franaszczyk, Anna Potulska-Chromik, Piotr Pruszczyk, Elżbieta Sadurska, Justyna Karolczak, Anna M. Kamińska, Maria Jolanta Rędowicz

J Muscle Res Cell Motil. 2015; 36: 423–432. Published online 2015 Nov 6. doi: 10.1007/s10974-015-9431-3

PMCID:: PMC4762926

Article PDF–6.5M

Select item 463725020.

COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy

Barbara Gandolfi, Robert A. Grahn, Erica K. Creighton, D. Colette Williams, Peter J. Dickinson, Beverly K. Sturges, Ling T. Guo, G. Diane Shelton, Peter A. J. Leegwater, Maria Longeri, Richard Malik, Leslie A. Lyons

Anim Genet. 2015 Dec; 46(6): 711–715. Published online 2015 Sep 16. doi: 10.1111/age.12350

PMCID:: PMC4637250

Article PDF–168K

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