PMC Articles for MedGen (Select 334472) - PMC

Select item 93543811.

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

Abstract Article PDF–3.8M

Select item 80011522.

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

Abstract Article PDF–28M

Select item 77137423.

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

Abstract Article PDF–1.2M

Select item 47629264.

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

Abstract Article PDF–6.5M

Select item 46372505.

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

Abstract Article PDF–168K

Select item 37988386.

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

Mariacristina Scoto, Thomas Cullup, Sebahattin Cirak, Shu Yau, Adnan Y Manzur, Lucy Feng, Thomas S Jacques, Glenn Anderson, Stephen Abbs, Caroline Sewry, Heinz Jungbluth, Francesco Muntoni

Eur J Hum Genet. 2013 Nov; 21(11): 1249–1252. Published online 2013 Feb 27. doi: 10.1038/ejhg.2013.31

PMCID:: PMC3798838

Abstract Article PDF–842K

Select item 33776767.

A Novel Autosomal Dominant Inclusion Body Myopathy Linked to 7q22.1-31.1

Yan Lu, Xingang Li, Min Wang, Xin Li, Feng Zhang, Yun Li, Meng Zhang, Yuwei Da, Jun Yu, Jianping Jia

PLoS One. 2012; 7(6): e39288. Published online 2012 Jun 18. doi: 10.1371/journal.pone.0039288

PMCID:: PMC3377676

Abstract Article PDF–697K

Select item 33597548.

Titin mutation segregates with hereditary myopathy with early respiratory failure

Gerald Pfeffer, Hannah R. Elliott, Helen Griffin, Rita Barresi, James Miller, Julie Marsh, Anni Evilä, Anna Vihola, Peter Hackman, Volker Straub, David J. Dick, Rita Horvath, Mauro Santibanez-Koref, Bjarne Udd, Patrick F. Chinnery

Brain. 2012 Jun; 135(6): 1695–1713. Published online 2012 May 9. doi: 10.1093/brain/aws102

PMCID:: PMC3359754

Abstract Article PDF–1.4M

Select item 26396289.

Mutation in BAG3 Causes Severe Dominant Childhood Muscular Dystrophy

Duygu Selcen, Francesco Muntoni, Barbara K. Burton, Elena Pegoraro MD, Caroline Sewry, Anna V. Bite, Andrew G. Engel

Ann Neurol. Author manuscript; available in PMC 2010 Jan 1.

Published in final edited form as: Ann Neurol. 2009 Jan; 65(1): 83–89. doi: 10.1002/ana.21553

PMCID:: PMC2639628

Abstract Article PDF–4.1M

Select item 1117852910.

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

Abstract Article PDF–12M

Select item 1092512111.

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

PMCID:: PMC10925121

Abstract Article PDF–8.2M

Select item 1077822112.

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

Abstract Article PDF–1.3M

Select item 1077540513.

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

Abstract Article

Select item 1065768414.

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

Abstract Article PDF–569K

Select item 1035613315.

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

PMCID:: PMC10356133

Abstract Article PDF–436K

Select item 859906416.

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

Abstract Article PDF–941K

Select item 841209117.

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

Abstract Article PDF–1.1M

Select item 748876018.

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

Abstract Article PDF–2.0M

Select item 664293819.

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

Abstract Article PDF–1010K

Select item 522021220.

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

Abstract Article PDF–324K

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