262 related articles for article (PubMed ID: 23620651)
1. Next generation sequencing (NGS) strategies for the genetic testing of myopathies.
Nigro V; Piluso G
Acta Myol; 2012 Dec; 31(3):196-200. PubMed ID: 23620651
[TBL] [Abstract][Full Text] [Related]
2. Differential diagnosis of vacuolar myopathies in the NGS era.
Mair D; Biskup S; Kress W; Abicht A; Brück W; Zechel S; Knop KC; Koenig FB; Tey S; Nikolin S; Eggermann K; Kurth I; Ferbert A; Weis J
Brain Pathol; 2020 Sep; 30(5):877-896. PubMed ID: 32419263
[TBL] [Abstract][Full Text] [Related]
3. Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.
Vill K; Blaschek A; Gläser D; Kuhn M; Haack T; Alhaddad B; Wagner M; Kovacs-Nagy R; Tacke M; Gerstl L; Schroeder AS; Borggraefe I; Mueller C; Schlotter-Weigel B; Schoser B; Walter MC; Müller-Felber W
J Neuromuscul Dis; 2017; 4(4):315-325. PubMed ID: 29172004
[TBL] [Abstract][Full Text] [Related]
4. Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L; Rodriguez MJ; Diaz-Manera J; Alonso-Perez J; Gallardo E; Nascimento A; Ortez C; Natera-de Benito D; Olive M; Gonzalez-Mera L; Munain AL; Zulaica M; Poza JJ; Jerico I; Torne L; Riera P; Milisenda J; Sanchez A; Garrabou G; Llano I; Madruga-Garrido M; Gallano P
Genes (Basel); 2020 May; 11(5):. PubMed ID: 32403337
[TBL] [Abstract][Full Text] [Related]
5. [Towards a national standardisation of NGS studies in the diagnosis of myopathies].
Krahn M; Cerino M; Campana-Salort E; Cossée M
Med Sci (Paris); 2017 Nov; 33 Hors série n°1():30-33. PubMed ID: 29139383
[No Abstract] [Full Text] [Related]
6. Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
Punetha J; Kesari A; Uapinyoying P; Giri M; Clarke NF; Waddell LB; North KN; Ghaoui R; O'Grady GL; Oates EC; Sandaradura SA; Bönnemann CG; Donkervoort S; Plotz PH; Smith EC; Tesi-Rocha C; Bertorini TE; Tarnopolsky MA; Reitter B; Hausmanowa-Petrusewicz I; Hoffman EP
J Neuromuscul Dis; 2016 May; 3(2):209-225. PubMed ID: 27854218
[TBL] [Abstract][Full Text] [Related]
7. Clinical massively parallel sequencing for the diagnosis of myopathies.
Gorokhova S; Biancalana V; Lévy N; Laporte J; Bartoli M; Krahn M
Rev Neurol (Paris); 2015; 171(6-7):558-71. PubMed ID: 26022190
[TBL] [Abstract][Full Text] [Related]
8. Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders.
Nigro V; Savarese M
Curr Opin Neurol; 2016 Oct; 29(5):621-7. PubMed ID: 27454578
[TBL] [Abstract][Full Text] [Related]
9. Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.
Lin X; Tang W; Ahmad S; Lu J; Colby CC; Zhu J; Yu Q
Hear Res; 2012 Jun; 288(1-2):67-76. PubMed ID: 22269275
[TBL] [Abstract][Full Text] [Related]
10. Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
Chae JH; Vasta V; Cho A; Lim BC; Zhang Q; Eun SH; Hahn SH
J Med Genet; 2015 Mar; 52(3):208-16. PubMed ID: 25635128
[TBL] [Abstract][Full Text] [Related]
11. [Diagnosis for skeletal muscle disorders using next-generation sequencing.].
Mitsuhashi S
Clin Calcium; 2017; 27(3):401-408. PubMed ID: 28232655
[TBL] [Abstract][Full Text] [Related]
12. Application of next generation sequencing to molecular diagnosis of inherited diseases.
Zhang W; Cui H; Wong LJ
Top Curr Chem; 2014; 336():19-45. PubMed ID: 22576358
[TBL] [Abstract][Full Text] [Related]
13. Targeted sequencing of the
Aravind S; Ashley B; Mannan A; Ganapathy A; Ramesh K; Ramachandran A; Nongthomba U; Shastry A
Indian J Med Res; 2019 Sep; 150(3):282-289. PubMed ID: 31719299
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.
Valencia CA; Rhodenizer D; Bhide S; Chin E; Littlejohn MR; Keong LM; Rutkowski A; Bonnemann C; Hegde M
J Mol Diagn; 2012; 14(3):233-46. PubMed ID: 22426012
[TBL] [Abstract][Full Text] [Related]
16. Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
Stehlíková K; Skálová D; Zídková J; Haberlová J; Voháňka S; Mazanec R; Mrázová L; Vondráček P; Ošlejšková H; Zámečník J; Honzík T; Zeman J; Magner M; Šišková D; Langová M; Gregor V; Godava M; Smolka V; Fajkusová L
Clin Genet; 2017 Mar; 91(3):463-469. PubMed ID: 27447704
[TBL] [Abstract][Full Text] [Related]
17. Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies.
Piluso G; Aurino S; Cacciottolo M; Del Vecchio Blanco F; Lancioni A; Rotundo IL; Torella A; Nigro V
Acta Myol; 2010 Jul; 29(1):1-20. PubMed ID: 22029103
[TBL] [Abstract][Full Text] [Related]
18. Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
Babić Božović I; Maver A; Leonardis L; Meznaric M; Osredkar D; Peterlin B
PLoS One; 2021; 16(6):e0252953. PubMed ID: 34106991
[TBL] [Abstract][Full Text] [Related]
19. The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies.
Kress W; Rost S; Kolokotronis K; Meng G; Pluta N; Müller-Reible C
Neuropediatrics; 2017 Aug; 48(4):242-246. PubMed ID: 28482373
[No Abstract] [Full Text] [Related]
20. Metabolic Myopathies in the Era of Next-Generation Sequencing.
Urtizberea JA; Severa G; Malfatti E
Genes (Basel); 2023 Apr; 14(5):. PubMed ID: 37239314
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]