293 related articles for article (PubMed ID: 28712002)
21. Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Nicole S; Chaouch A; Torbergsen T; Bauché S; de Bruyckere E; Fontenille MJ; Horn MA; van Ghelue M; Løseth S; Issop Y; Cox D; Müller JS; Evangelista T; Stålberg E; Ioos C; Barois A; Brochier G; Sternberg D; Fournier E; Hantaï D; Abicht A; Dusl M; Laval SH; Griffin H; Eymard B; Lochmüller H
Brain; 2014 Sep; 137(Pt 9):2429-43. PubMed ID: 24951643
[TBL] [Abstract][Full Text] [Related]
22. Leukoencephalopathy due to variants in
Helman G; Sharma S; Crawford J; Patra B; Jain P; Bent SJ; Urtizberea JA; Saran RK; Taft RJ; van der Knaap MS; Simons C
Neurology; 2019 Feb; 92(6):e587-e593. PubMed ID: 30635494
[TBL] [Abstract][Full Text] [Related]
23. Dok-7 mutations underlie a neuromuscular junction synaptopathy.
Beeson D; Higuchi O; Palace J; Cossins J; Spearman H; Maxwell S; Newsom-Davis J; Burke G; Fawcett P; Motomura M; Müller JS; Lochmüller H; Slater C; Vincent A; Yamanashi Y
Science; 2006 Sep; 313(5795):1975-8. PubMed ID: 16917026
[TBL] [Abstract][Full Text] [Related]
24. Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Brande LV; Bauché S; Pérez-Guàrdia L; Sternberg D; Seferian AM; Malfatti E; Silva-Rojas R; Labasse C; Chevessier F; Carlier P; Eymard B; Romero NB; Laporte J; Servais L; Gidaro T; Böhm J
Neuropathol Appl Neurobiol; 2023 Dec; ():e12952. PubMed ID: 38124360
[TBL] [Abstract][Full Text] [Related]
25. Congenital myasthenic syndrome in China: genetic and myopathological characterization.
Zhao Y; Li Y; Bian Y; Yao S; Liu P; Yu M; Zhang W; Wang Z; Yuan Y
Ann Clin Transl Neurol; 2021 Apr; 8(4):898-907. PubMed ID: 33756069
[TBL] [Abstract][Full Text] [Related]
26. GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.
Selcen D; Shen XM; Milone M; Brengman J; Ohno K; Deymeer F; Finkel R; Rowin J; Engel AG
Neurology; 2013 Jul; 81(4):370-8. PubMed ID: 23794683
[TBL] [Abstract][Full Text] [Related]
27. Trouble at the junction: When myopathy and myasthenia overlap.
Nicolau S; Kao JC; Liewluck T
Muscle Nerve; 2019 Dec; 60(6):648-657. PubMed ID: 31449669
[TBL] [Abstract][Full Text] [Related]
28. Very late-onset limb-girdle congenital myasthenic syndrome due to GFPT1 mutation.
El-Wahsh S; Wijesinghe R; Qiu J; Heard R; Stoll M; Reddel S
Muscle Nerve; 2023 Sep; 68(3):E32-E34. PubMed ID: 37403580
[No Abstract] [Full Text] [Related]
29. Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.
Ben Ammar A; Petit F; Alexandri N; Gaudon K; Bauché S; Rouche A; Gras D; Fournier E; Koenig J; Stojkovic T; Lacour A; Petiot P; Zagnoli F; Viollet L; Pellegrini N; Orlikowski D; Lazaro L; Ferrer X; Stoltenburg G; Paturneau-Jouas M; Hentati F; Fardeau M; Sternberg D; Hantaï D; Richard P; Eymard B
J Neurol; 2010 May; 257(5):754-66. PubMed ID: 20012313
[TBL] [Abstract][Full Text] [Related]
30. Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
Tsao CY
Pediatr Neurol; 2016 Jan; 54():85-7. PubMed ID: 26552645
[TBL] [Abstract][Full Text] [Related]
31. Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K; Sunitha B; Töpf A; Preethish-Kumar V; Thompson R; Vengalil S; Nashi S; Bardhan M; Sanka SB; Huddar A; Unnikrishnan G; Arunachal G; Girija MS; Porter A; Azuma Y; Lorenzoni PJ; Baskar D; Anjanappa RM; Keertipriya M; Padmanabh H; Harikrishna GV; Laurie S; Matalonga L; Horvath R; Nalini A; Lochmüller H
Brain; 2024 Jan; 147(1):281-296. PubMed ID: 37721175
[TBL] [Abstract][Full Text] [Related]
32. Clinical and research strategies for limb-girdle congenital myasthenic syndromes.
O'Connor E; Töpf A; Zahedi RP; Spendiff S; Cox D; Roos A; Lochmüller H
Ann N Y Acad Sci; 2018 Jan; 1412(1):102-112. PubMed ID: 29315608
[TBL] [Abstract][Full Text] [Related]
33. Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.
Yiş U; Becker K; Kurul SH; Uyanik G; Bayram E; Haliloğlu G; Polat Aİ; Ayanoğlu M; Okur D; Tosun AF; Serdaroğlu G; Yilmaz S; Topaloğlu H; Anlar B; Cirak S; Engel AG
J Child Neurol; 2017 Jul; 32(8):759-765. PubMed ID: 28464723
[TBL] [Abstract][Full Text] [Related]
34. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Müller JS; Herczegfalvi A; Vilchez JJ; Colomer J; Bachinski LL; Mihaylova V; Santos M; Schara U; Deschauer M; Shevell M; Poulin C; Dias A; Soudo A; Hietala M; Aärimaa T; Krahe R; Karcagi V; Huebner A; Beeson D; Abicht A; Lochmüller H
Brain; 2007 Jun; 130(Pt 6):1497-506. PubMed ID: 17439981
[TBL] [Abstract][Full Text] [Related]
35. A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission.
Nicolau S; Liewluck T; Shen XM; Selcen D; Engel AG; Milone M
Neuromuscul Disord; 2019 Aug; 29(8):614-617. PubMed ID: 31378432
[TBL] [Abstract][Full Text] [Related]
36. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Mihaylova V; Müller JS; Vilchez JJ; Salih MA; Kabiraj MM; D'Amico A; Bertini E; Wölfle J; Schreiner F; Kurlemann G; Rasic VM; Siskova D; Colomer J; Herczegfalvi A; Fabriciova K; Weschke B; Scola R; Hoellen F; Schara U; Abicht A; Lochmüller H
Brain; 2008 Mar; 131(Pt 3):747-59. PubMed ID: 18180250
[TBL] [Abstract][Full Text] [Related]
37. Congenital myasthenic syndrome caused by mutations in DPAGT.
Klein A; Robb S; Rushing E; Liu WW; Belaya K; Beeson D
Neuromuscul Disord; 2015 Mar; 25(3):253-6. PubMed ID: 25500013
[TBL] [Abstract][Full Text] [Related]
38. Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.
Selvam P; Arunachal G; Danda S; Chapla A; Sivadasan A; Alexander M; Thomas MM; Thomas NJ
J Clin Neuromuscul Dis; 2018 Sep; 20(1):14-27. PubMed ID: 30124556
[TBL] [Abstract][Full Text] [Related]
39. Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency.
Sigoillot SM; Bourgeois F; Karmouch J; Molgó J; Dobbertin A; Chevalier C; Houlgatte R; Léger J; Legay C
FASEB J; 2016 Jun; 30(6):2382-99. PubMed ID: 26993635
[TBL] [Abstract][Full Text] [Related]
40. Current status of the congenital myasthenic syndromes.
Engel AG
Neuromuscul Disord; 2012 Feb; 22(2):99-111. PubMed ID: 22104196
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
