181 related articles for article (PubMed ID: 37562885)
41. A brief history of the congenital myopathies - the myopathological perspective.
Goebel HH; Stenzel W
Neuromuscul Disord; 2023 Dec; 33(12):990-995. PubMed ID: 37980206
[TBL] [Abstract][Full Text] [Related]
42. Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.
Gajda A; Horváth E; Hortobágyi T; Gergev G; Szabó H; Farkas K; Nagy N; Széll M; Sztriha L
J Child Neurol; 2015 Apr; 30(5):627-30. PubMed ID: 24056153
[TBL] [Abstract][Full Text] [Related]
43. Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1.
Hernandez-Lain A; Cantero D; Camacho-Salas A; Toldos O; Esteban I; Pascual I; Dominguez-Gonzalez C
Neuromuscul Disord; 2019 Mar; 29(3):247-250. PubMed ID: 30732915
[TBL] [Abstract][Full Text] [Related]
44. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
Jungbluth H; Sewry CA; Brown SC; Nowak KJ; Laing NG; Wallgren-Pettersson C; Pelin K; Manzur AY; Mercuri E; Dubowitz V; Muntoni F
Neuromuscul Disord; 2001 Jan; 11(1):35-40. PubMed ID: 11166164
[TBL] [Abstract][Full Text] [Related]
45. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Zaharieva IT; Thor MG; Oates EC; van Karnebeek C; Hendson G; Blom E; Witting N; Rasmussen M; Gabbett MT; Ravenscroft G; Sframeli M; Suetterlin K; Sarkozy A; D'Argenzio L; Hartley L; Matthews E; Pitt M; Vissing J; Ballegaard M; Krarup C; Slørdahl A; Halvorsen H; Ye XC; Zhang LH; Løkken N; Werlauff U; Abdelsayed M; Davis MR; Feng L; Phadke R; Sewry CA; Morgan JE; Laing NG; Vallance H; Ruben P; Hanna MG; Lewis S; Kamsteeg EJ; Männikkö R; Muntoni F
Brain; 2016 Mar; 139(Pt 3):674-91. PubMed ID: 26700687
[TBL] [Abstract][Full Text] [Related]
46. A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers.
Evangelista T; Lornage X; Carlier PG; Bassez G; Brochier G; Chanut A; Lacène E; Bui MT; Metay C; Oppermann U; Böhm J; Laporte J; Romero NB
J Neuropathol Exp Neurol; 2020 Aug; 79(8):908-914. PubMed ID: 32607581
[TBL] [Abstract][Full Text] [Related]
47. Recent advances in nemaline myopathy.
Laitila J; Wallgren-Pettersson C
Neuromuscul Disord; 2021 Oct; 31(10):955-967. PubMed ID: 34561123
[TBL] [Abstract][Full Text] [Related]
48. Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center.
Yin X; Pu C; Wang Z; Li K; Wang H
Acta Neurol Belg; 2022 Jun; 122(3):631-639. PubMed ID: 33742414
[TBL] [Abstract][Full Text] [Related]
49. Nemaline rod myopathy: a rare form of myopathy.
Sharma MC; Gulati S; Atri S; Seth R; Kalra V; Das TK; Sarkar C
Neurol India; 2007; 55(1):70-4. PubMed ID: 17272906
[TBL] [Abstract][Full Text] [Related]
50. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
Monnier N; Romero NB; Lerale J; Nivoche Y; Qi D; MacLennan DH; Fardeau M; Lunardi J
Hum Mol Genet; 2000 Nov; 9(18):2599-608. PubMed ID: 11063719
[TBL] [Abstract][Full Text] [Related]
51. Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
Miyatake S; Mitsuhashi S; Hayashi YK; Purevjav E; Nishikawa A; Koshimizu E; Suzuki M; Yatabe K; Tanaka Y; Ogata K; Kuru S; Shiina M; Tsurusaki Y; Nakashima M; Mizuguchi T; Miyake N; Saitsu H; Ogata K; Kawai M; Towbin J; Nonaka I; Nishino I; Matsumoto N
Am J Hum Genet; 2017 Jan; 100(1):169-178. PubMed ID: 28017374
[TBL] [Abstract][Full Text] [Related]
52. Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).
Seferian AM; Malfatti E; Bosson C; Pelletier L; Taytard J; Forin V; Gidaro T; Gargaun E; Carlier P; Fauré J; Romero NB; Rendu J; Servais L
Neuromuscul Disord; 2016 Oct; 26(10):712-716. PubMed ID: 27528495
[TBL] [Abstract][Full Text] [Related]
53. NEB-related core-rod myopathy with distinct clinical and pathological features.
Park YE; Shin JH; Kang B; Lee CH; Kim DS
Muscle Nerve; 2016 Mar; 53(3):479-84. PubMed ID: 26562614
[TBL] [Abstract][Full Text] [Related]
54. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).
Tajsharghi H; Ohlsson M; Lindberg C; Oldfors A
Arch Neurol; 2007 Sep; 64(9):1334-8. PubMed ID: 17846275
[TBL] [Abstract][Full Text] [Related]
55. Therapeutic approaches in different congenital myopathies.
Gineste C; Laporte J
Curr Opin Pharmacol; 2023 Feb; 68():102328. PubMed ID: 36512981
[TBL] [Abstract][Full Text] [Related]
56. [Congenital myopathies].
Cabello A; Ricoy-Campo JR
Rev Neurol; 2003 Oct 16-31; 37(8):779-86. PubMed ID: 14593641
[TBL] [Abstract][Full Text] [Related]
57. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.
Segarra-Casas A; Collet R; Gonzalez-Quereda L; Vesperinas A; Caballero-Ávila M; Carbayo A; Díaz-Manera J; Rodriguez MJ; Gallardo E; Gallano P; Olivé M
Neuromuscul Disord; 2023 Apr; 33(4):319-323. PubMed ID: 36893608
[TBL] [Abstract][Full Text] [Related]
58. Nemaline myopathies: State of the art.
Malfatti E; Romero NB
Rev Neurol (Paris); 2016 Oct; 172(10):614-619. PubMed ID: 27659899
[TBL] [Abstract][Full Text] [Related]
59. Congenital myopathies: not only a paediatric topic.
Jungbluth H; Voermans NC
Curr Opin Neurol; 2016 Oct; 29(5):642-50. PubMed ID: 27538056
[TBL] [Abstract][Full Text] [Related]
60. Congenital myopathies in the new millennium.
Goebel HH
J Child Neurol; 2005 Feb; 20(2):94-101. PubMed ID: 15794172
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]