464 related articles for article (PubMed ID: 27357428)
41. [Diagnostic value of muscle, sural nerve and skin biopsies in childhood neuromuscular disorders].
Chang XZ; Zhou JY; Yuan Y; Wu Y; Li YX; Zhang W; Jiang YW; Bao XH; Zhang YH; Wang S; Xiong H; Yang YL; Qin J
Zhonghua Er Ke Za Zhi; 2006 Dec; 44(12):909-12. PubMed ID: 17254458
[TBL] [Abstract][Full Text] [Related]
42. Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children.
Hoei-Hansen CE; Tygesen MLB; Dunø M; Vissing J; Ballegaard M; Born AP
Neuropediatrics; 2021 Dec; 52(6):462-468. PubMed ID: 33706403
[TBL] [Abstract][Full Text] [Related]
43. Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred.
Ifergane G; Al-Sayed I; Birk O; Harel T; Wirguin I
Eur J Neurol; 2007 Mar; 14(3):305-8. PubMed ID: 17355552
[TBL] [Abstract][Full Text] [Related]
44. Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders.
Nishikawa A; Mitsuhashi S; Miyata N; Nishino I
J Med Genet; 2017 Feb; 54(2):104-110. PubMed ID: 27600705
[TBL] [Abstract][Full Text] [Related]
45. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Susman RD; Quijano-Roy S; Yang N; Webster R; Clarke NF; Dowling J; Kennerson M; Nicholson G; Biancalana V; Ilkovski B; Flanigan KM; Arbuckle S; Malladi C; Robinson P; Vucic S; Mayer M; Romero NB; Urtizberea JA; García-Bragado F; Guicheney P; Bitoun M; Carlier RY; North KN
Neuromuscul Disord; 2010 Apr; 20(4):229-37. PubMed ID: 20227276
[TBL] [Abstract][Full Text] [Related]
46. Congenital myopathies and muscular dystrophies.
Gilbreath HR; Castro D; Iannaccone ST
Neurol Clin; 2014 Aug; 32(3):689-703, viii. PubMed ID: 25037085
[TBL] [Abstract][Full Text] [Related]
47. High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.
Çavdarlı B; Köken ÖY; Satılmış SBA; Bilen Ş; Ardıçlı D; Ceylan AC; Gündüz CNS; Topaloğlu H
Ann Hum Genet; 2023 May; 87(3):104-114. PubMed ID: 36575883
[TBL] [Abstract][Full Text] [Related]
48. 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]
49. Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
Nijman IJ; van Montfrans JM; Hoogstraat M; Boes ML; van de Corput L; Renner ED; van Zon P; van Lieshout S; Elferink MG; van der Burg M; Vermont CL; van der Zwaag B; Janson E; Cuppen E; Ploos van Amstel JK; van Gijn ME
J Allergy Clin Immunol; 2014 Feb; 133(2):529-34. PubMed ID: 24139496
[TBL] [Abstract][Full Text] [Related]
50. Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.
Guo Y; Menezes MJ; Menezes MP; Liang J; Li D; Riley LG; Clarke NF; Andrews PI; Tian L; Webster R; Wang F; Liu X; Shen Y; Thorburn DR; Keating BJ; Engel A; Hakonarson H; Christodoulou J; Xu X
Neuromuscul Disord; 2015 Mar; 25(3):257-61. PubMed ID: 25557462
[TBL] [Abstract][Full Text] [Related]
51. Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy.
Bazrafshan S; Kushlaf H; Kakroo M; Quinlan J; Becker RC; Sadayappan S
Cells; 2021 Feb; 10(2):. PubMed ID: 33567613
[TBL] [Abstract][Full Text] [Related]
52. Mutation spectrum of hereditary myopathies in Turkish patients and novel variants.
Saat H; Sahin I
Ann Hum Genet; 2021 Sep; 85(5):178-185. PubMed ID: 33963534
[TBL] [Abstract][Full Text] [Related]
53. Expanding the phenotypic spectrum associated with mutations of DYNC1H1.
Beecroft SJ; McLean CA; Delatycki MB; Koshy K; Yiu E; Haliloglu G; Orhan D; Lamont PJ; Davis MR; Laing NG; Ravenscroft G
Neuromuscul Disord; 2017 Jul; 27(7):607-615. PubMed ID: 28554554
[TBL] [Abstract][Full Text] [Related]
54. Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Beecroft SJ; Yau KS; Allcock RJN; Mina K; Gooding R; Faiz F; Atkinson VJ; Wise C; Sivadorai P; Trajanoski D; Kresoje N; Ong R; Duff RM; Cabrera-Serrano M; Nowak KJ; Pachter N; Ravenscroft G; Lamont PJ; Davis MR; Laing NG
Ann Clin Transl Neurol; 2020 Mar; 7(3):353-362. PubMed ID: 32153140
[TBL] [Abstract][Full Text] [Related]
55. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic.
Waldrop MA; Pastore M; Schrader R; Sites E; Bartholomew D; Tsao CY; Flanigan KM
Neuropediatrics; 2019 Apr; 50(2):96-102. PubMed ID: 30665247
[TBL] [Abstract][Full Text] [Related]
56. Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders.
Sommerville RB; Vincenti MG; Winborn K; Casey A; Stitziel NO; Connolly AM; Mann DL
Trends Cardiovasc Med; 2017 Jan; 27(1):51-58. PubMed ID: 27452966
[TBL] [Abstract][Full Text] [Related]
57. Centronuclear myopathy. Histopathological aspects in ten patients with childhood onset.
Zanoteli E; Oliveira AS; Kiyomoto BH; Schmidt B; Gabbai AA
Arq Neuropsiquiatr; 1998 Mar; 56(1):1-8. PubMed ID: 9686113
[TBL] [Abstract][Full Text] [Related]
58. Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Tsang MHY; Chiu ATG; Kwong BMH; Liang R; Yu MHC; Yeung KS; Ho WHL; Mak CCY; Leung GKC; Pei SLC; Fung JLF; Wong VCN; Muntoni F; Chung BHY; Chan SHS
Mol Genet Genomic Med; 2020 May; 8(5):e1205. PubMed ID: 32154989
[TBL] [Abstract][Full Text] [Related]
59. The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.
Natera-de Benito D; Ortez C; Jou C; Jimenez-Mallebrera C; Codina A; Carrera-García L; Expósito-Escudero J; Cesar S; Martorell L; Gallano P; Gonzalez-Quereda L; Cuadras D; Colomer J; Yubero D; Palau F; Nascimento A
Pediatr Neurol; 2021 Feb; 115():50-65. PubMed ID: 33333461
[TBL] [Abstract][Full Text] [Related]
60. Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.
Bernardis I; Chiesi L; Tenedini E; Artuso L; Percesepe A; Artusi V; Simone ML; Manfredini R; Camparini M; Rinaldi C; Ciardella A; Graziano C; Balducci N; Tranchina A; Cavallini GM; Pietrangelo A; Marigo V; Tagliafico E
Biomed Res Int; 2016; 2016():6341870. PubMed ID: 28127548
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]