230 related articles for article (PubMed ID: 32776697)
1. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Donkervoort S; Mohassel P; Laugwitz L; Zaki MS; Kamsteeg EJ; Maroofian R; Chao KR; Verschuuren-Bemelmans CC; Horber V; Fock AJM; McCarty RM; Jain MS; Biancavilla V; McMacken G; Nalls M; Voermans NC; Elbendary HM; Snyder M; Cai C; Lehky TJ; Stanley V; Iannaccone ST; Foley AR; Lochmüller H; Gleeson J; Houlden H; Haack TB; Horvath R; Bönnemann CG
Am J Med Genet A; 2020 Oct; 182(10):2272-2283. PubMed ID: 32776697
[TBL] [Abstract][Full Text] [Related]
2. Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations.
Maselli RA; Wei DT; Hodgson TS; Sampson JB; Vazquez J; Smith HL; Pytel P; Ferns M
Muscle Nerve; 2021 Aug; 64(2):219-224. PubMed ID: 34037996
[TBL] [Abstract][Full Text] [Related]
3. Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence.
Maselli RA; van der Linden H; Ferns M
Am J Med Genet A; 2020 Jul; 182(7):1744-1749. PubMed ID: 32250532
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
Fionda L; Turon-Sans J; Fuentes Prior P; Bernal Noguera S; Cortés-Vicente E; López-Pérez MA; Gallardo E; Rojas-García R
J Peripher Nerv Syst; 2021 Mar; 26(1):113-117. PubMed ID: 33320396
[TBL] [Abstract][Full Text] [Related]
6. How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.
Lorenzoni PJ; Scola RH; Kay CSK; Werneck LC; Horvath R; Lochmüller H
Neuromolecular Med; 2018 Jun; 20(2):205-214. PubMed ID: 29696584
[TBL] [Abstract][Full Text] [Related]
7. Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.
Whittaker RG; Herrmann DN; Bansagi B; Hasan BA; Lofra RM; Logigian EL; Sowden JE; Almodovar JL; Littleton JT; Zuchner S; Horvath R; Lochmüller H
Neurology; 2015 Dec; 85(22):1964-71. PubMed ID: 26519543
[TBL] [Abstract][Full Text] [Related]
8. New recessive mutations in
Bauché S; Sureau A; Sternberg D; Rendu J; Buon C; Messéant J; Boëx M; Furling D; Fauré J; Latypova X; Gelot AB; Mayer M; Mary P; Whalen S; Fournier E; Cloix I; Remerand G; Laffargue F; Nougues MC; Fontaine B; Eymard B; Isapof A; Strochlic L
Neurol Genet; 2020 Dec; 6(6):e534. PubMed ID: 33659639
[TBL] [Abstract][Full Text] [Related]
9. Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S; O'Regan S; Azuma Y; Laffargue F; McMacken G; Sternberg D; Brochier G; Buon C; Bouzidi N; Topf A; Lacène E; Remerand G; Beaufrere AM; Pebrel-Richard C; Thevenon J; El Chehadeh-Djebbar S; Faivre L; Duffourd Y; Ricci F; Mongini T; Fiorillo C; Astrea G; Burloiu CM; Butoianu N; Sandu C; Servais L; Bonne G; Nelson I; Desguerre I; Nougues MC; Bœuf B; Romero N; Laporte J; Boland A; Lechner D; Deleuze JF; Fontaine B; Strochlic L; Lochmuller H; Eymard B; Mayer M; Nicole S
Am J Hum Genet; 2016 Sep; 99(3):753-761. PubMed ID: 27569547
[TBL] [Abstract][Full Text] [Related]
10. Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.
Herrmann DN; Horvath R; Sowden JE; Gonzalez M; Sanchez-Mejias A; Guan Z; Whittaker RG; Almodovar JL; Lane M; Bansagi B; Pyle A; Boczonadi V; Lochmüller H; Griffin H; Chinnery PF; Lloyd TE; Littleton JT; Zuchner S
Am J Hum Genet; 2014 Sep; 95(3):332-9. PubMed ID: 25192047
[TBL] [Abstract][Full Text] [Related]
11. Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Salpietro V; Lin W; Delle Vedove A; Storbeck M; Liu Y; Efthymiou S; Manole A; Wiethoff S; Ye Q; Saggar A; McElreavey K; Krishnakumar SS; ; Pitt M; Bello OD; Rothman JE; Basel-Vanagaite L; Hubshman MW; Aharoni S; Manzur AY; Wirth B; Houlden H
Ann Neurol; 2017 Apr; 81(4):597-603. PubMed ID: 28253535
[TBL] [Abstract][Full Text] [Related]
12. The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
Rodríguez Cruz PM; Palace J; Beeson D
Int J Mol Sci; 2018 Jun; 19(6):. PubMed ID: 29874875
[TBL] [Abstract][Full Text] [Related]
13. Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
O'Connor E; Töpf A; Müller JS; Cox D; Evangelista T; Colomer J; Abicht A; Senderek J; Hasselmann O; Yaramis A; Laval SH; Lochmüller H
Brain; 2016 Aug; 139(Pt 8):2143-53. PubMed ID: 27259756
[TBL] [Abstract][Full Text] [Related]
14. The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM; Cossins J; Estephan EP; Munell F; Selby K; Hirano M; Maroofin R; Mehrjardi MYV; Chow G; Carr A; Manzur A; Robb S; Munot P; Wei Liu W; Banka S; Fraser H; De Goede C; Zanoteli E; Conti Reed U; Sage A; Gratacos M; Macaya A; Dusl M; Senderek J; Töpf A; Hofer M; Knight R; Ramdas S; Jayawant S; Lochmüller H; Palace J; Beeson D
Brain; 2019 Jun; 142(6):1547-1560. PubMed ID: 31081514
[TBL] [Abstract][Full Text] [Related]
15. Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.
Matlik HN; Milhem RM; Saadeldin IY; Al-Jaibeji HS; Al-Gazali L; Ali BR
Pediatr Neurol; 2014 Jul; 51(1):165-9. PubMed ID: 24938146
[TBL] [Abstract][Full Text] [Related]
16. Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.
Cotrina-Vinagre FJ; Rodríguez-García ME; Del Pozo-Filíu L; Hernández-Laín A; Arteche-López A; Morte B; Sevilla M; Pérez-Jurado LA; Quijada-Fraile P; Camacho A; Martínez-Azorín F
J Hum Genet; 2024 May; 69(5):187-196. PubMed ID: 38355957
[TBL] [Abstract][Full Text] [Related]
17. Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.
Schmidt C; Abicht A; Krampfl K; Voss W; Stucka R; Mildner G; Petrova S; Schara U; Mortier W; Bufler J; Huebner A; Lochmüller H
Neuromuscul Disord; 2003 Mar; 13(3):245-51. PubMed ID: 12609506
[TBL] [Abstract][Full Text] [Related]
18. Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.
Al-Muhaizea MA; AlQuait L; AlRasheed A; AlHarbi S; Albader AA; AlMass R; Albakheet A; Alhumaidan A; AlRasheed MM; Colak D; Kaya N
Neuromuscul Disord; 2020 Jul; 30(7):611-615. PubMed ID: 32616363
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
Müller JS; Mildner G; Müller-Felber W; Schara U; Krampfl K; Petersen B; Petrova S; Stucka R; Mortier W; Bufler J; Kurlemann G; Huebner A; Merlini L; Lochmüller H; Abicht A
Neurology; 2003 Jun; 60(11):1805-10. PubMed ID: 12796535
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
