154 related articles for article (PubMed ID: 38664571)
1. The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.
Vishnu VY; Lemmers RJLF; Reyaz A; Mishra R; Ahmad T; van der Vliet PJ; Kretkiewicz MM; Macken WL; Efthymiou S; Dominik N; Morrow JM; Bhatia R; Wilson LA; Houlden H; Hanna MG; Bugiardini E; van der Maarel SM; Srivastava MVP
Eur J Hum Genet; 2024 Apr; ():. PubMed ID: 38664571
[TBL] [Abstract][Full Text] [Related]
2. CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis.
Rieken A; Bossler AD; Mathews KD; Moore SA
Neurology; 2021 Feb; 96(7):e1054-e1062. PubMed ID: 33443126
[TBL] [Abstract][Full Text] [Related]
3. Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based study.
Wang Z; Qiu L; Lin M; Chen L; Zheng F; Lin L; Lin F; Ye Z; Lin X; He J; Wang L; Lin X; He Q; Chen W; Lin Y; Fu Y; Wang N
Lancet Reg Health West Pac; 2022 Jan; 18():100323. PubMed ID: 35024656
[TBL] [Abstract][Full Text] [Related]
4. Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.
Jones TI; King OD; Himeda CL; Homma S; Chen JC; Beermann ML; Yan C; Emerson CP; Miller JB; Wagner KR; Jones PL
Clin Epigenetics; 2015; 7(1):37. PubMed ID: 25904990
[TBL] [Abstract][Full Text] [Related]
5. Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Erdmann H; Scharf F; Gehling S; Benet-Pagès A; Jakubiczka S; Becker K; Seipelt M; Kleefeld F; Knop KC; Prott EC; Hiebeler M; Montagnese F; Gläser D; Vorgerd M; Hagenacker T; Walter MC; Reilich P; Neuhann T; Zenker M; Holinski-Feder E; Schoser B; Abicht A
Brain; 2023 Apr; 146(4):1388-1402. PubMed ID: 36100962
[TBL] [Abstract][Full Text] [Related]
6. Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.
Jones TI; Yan C; Sapp PC; McKenna-Yasek D; Kang PB; Quinn C; Salameh JS; King OD; Jones PL
Clin Epigenetics; 2014; 6(1):23. PubMed ID: 25400706
[TBL] [Abstract][Full Text] [Related]
7. Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review.
Chen TH; Wu YZ; Tseng YH
Int J Mol Sci; 2020 Oct; 21(20):. PubMed ID: 33096728
[TBL] [Abstract][Full Text] [Related]
8. A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1.
Wohlgemuth M; Lemmers RJ; Jonker M; van der Kooi E; Horlings CG; van Engelen BG; van der Maarel SM; Padberg GW; Voermans NC
Neurology; 2018 Jul; 91(5):e444-e454. PubMed ID: 29997197
[TBL] [Abstract][Full Text] [Related]
9. The French National Registry of patients with Facioscapulohumeral muscular dystrophy.
Guien C; Blandin G; Lahaut P; Sanson B; Nehal K; Rabarimeriarijaona S; Bernard R; Lévy N; Sacconi S; Béroud C
Orphanet J Rare Dis; 2018 Dec; 13(1):218. PubMed ID: 30514324
[TBL] [Abstract][Full Text] [Related]
10. Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping.
Guruju NM; Jump V; Lemmers R; Van Der Maarel S; Liu R; Nallamilli BR; Shenoy S; Chaubey A; Koppikar P; Rose R; Khadilkar S; Hegde M
Neurol Genet; 2023 Dec; 9(6):e200107. PubMed ID: 38021397
[TBL] [Abstract][Full Text] [Related]
11. Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy.
Gros M; Nunes AM; Daoudlarian D; Pini J; Martinuzzi E; Barbosa S; Ramirez M; Puma A; Villa L; Cavalli M; Grecu N; Garcia J; Siciliano G; Solé G; Juntas-Morales R; Jones PL; Jones T; Glaichenhaus N; Sacconi S
J Neuromuscul Dis; 2022; 9(1):83-93. PubMed ID: 34459413
[TBL] [Abstract][Full Text] [Related]
12. Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.
Wang ZQ; Wang N; van der Maarel S; Murong SX; Wu ZY
Eur J Hum Genet; 2011 Jan; 19(1):64-9. PubMed ID: 20736973
[TBL] [Abstract][Full Text] [Related]
13. Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
Ricci G; Mele F; Govi M; Ruggiero L; Sera F; Vercelli L; Bettio C; Santoro L; Mongini T; Villa L; Moggio M; Filosto M; Scarlato M; Previtali SC; Tripodi SM; Pegoraro E; Telese R; Di Muzio A; Rodolico C; Bucci E; Antonini G; D'Angelo MG; Berardinelli A; Maggi L; Piras R; Maioli MA; Siciliano G; Tomelleri G; Angelini C; Tupler R
Sci Rep; 2020 Dec; 10(1):21648. PubMed ID: 33303865
[TBL] [Abstract][Full Text] [Related]
14. [Facioscapulohumeral muscular dystrophy type 2].
Sacconi S; Desnuelle C
Rev Neurol (Paris); 2013; 169(8-9):564-72. PubMed ID: 23969240
[TBL] [Abstract][Full Text] [Related]
15. Predictors of functional outcomes in patients with facioscapulohumeral muscular dystrophy.
Katz NK; Hogan J; Delbango R; Cernik C; Tawil R; Statland JM
Brain; 2021 Dec; 144(11):3451-3460. PubMed ID: 34542603
[TBL] [Abstract][Full Text] [Related]
16. Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.
Scionti I; Fabbri G; Fiorillo C; Ricci G; Greco F; D'Amico R; Termanini A; Vercelli L; Tomelleri G; Cao M; Santoro L; Percesepe A; Tupler R
J Med Genet; 2012 Mar; 49(3):171-8. PubMed ID: 22217918
[TBL] [Abstract][Full Text] [Related]
17. Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation.
Alavi A; Esmaeili S; Nafissi S; Kahrizi K; Najmabadi H
Neuromuscul Disord; 2018 Apr; 28(4):303-314. PubMed ID: 29402602
[TBL] [Abstract][Full Text] [Related]
18. Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease.
Himeda CL; Jones TI; Jones PL
Antioxid Redox Signal; 2015 Jun; 22(16):1463-82. PubMed ID: 25336259
[TBL] [Abstract][Full Text] [Related]
19. Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy.
Ruggiero L; Mele F; Manganelli F; Bruzzese D; Ricci G; Vercelli L; Govi M; Vallarola A; Tripodi S; Villa L; Di Muzio A; Scarlato M; Bucci E; Antonini G; Maggi L; Rodolico C; Tomelleri G; Filosto M; Previtali S; Angelini C; Berardinelli A; Pegoraro E; Moggio M; Mongini T; Siciliano G; Santoro L; Tupler R
JAMA Netw Open; 2020 May; 3(5):e204040. PubMed ID: 32356886
[TBL] [Abstract][Full Text] [Related]
20. Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy Subjects.
Gould T; Jones TI; Jones PL
Diagnostics (Basel); 2021 Aug; 11(8):. PubMed ID: 34441403
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
