Results 161 to 170 of about 5,041 (194)

Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy

Neuromuscular Disorders, 2021
This study aims to investigate intra-rater reliability and construct validity of the Facioscapulohumeral Dystrophy Composite Outcome Measure (FSHD-COM), in childhood FSHD.
Katy De Valle, Kate Carroll, M M Ryan
exaly   +2 more sources

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Improved characterization of FSHD mutations

Annales de Génétique, 2001
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the shortest alleles of the 3.3kb-tandem repeat array D4Z4 at 4q35. Molecular diagnosis of FSHD depends upon the separation of unusually large alleles by pulse-field electrophoresis after EcoRI and EcoRI/BlnI digestion. The exact number of alleles could not however be directly inferred from the
Y, Zhang, J, Forner, S, Fournet, M, Jeanpierre   +3 more
openaire   +2 more sources

Fazioskapulohumerale Muskeldystrophie (FSHD)

2014
Im Erwachsenenalter manifestiert sie sich die FSHD1/FSHD2, um die es im vorliegenden Kapitel geht, i. d. R. mit einer Muskelschwache im Bereich der Schultergurtel-, Oberarm-, Gesichts- und Halsmuskulatur und der distaler Extremitatenmuskeln, insbesondere der Fingerstrecker und Fusheber. Die Muskelschwache ist haufig asymmetrisch ausgepragt.
U. Schara, C. Schneider-Gold
openaire   +2 more sources

FSHD in Chinese population

Neurology, 2004
Current studies of facioscapulohumeral muscular dystrophy (FSHD) are confined to the white population. The authors surveyed 110 healthy individuals and 27 families with FSHD including 55 patients and 74 relatives by pulsed-field gel electrophoresis. The authors report the characteristics of translocation and genotype-phenotype correlation, and their ...
Zhi-Ying, Wu, Zhi-Qiang, Wang, Shen-Xing, Murong, Ning, Wang   +3 more
openaire   +2 more sources

FSHD / OPMD / MYOTONIC DYSTROPHY

Neuromuscular Disorders, 2020
D. van As, K. Okkersen, B. van Engelen, G. Bassez, B. Schoser, G. Gorman, P. 't Hoen   +6 more
  +6 more sources

FSHD

Neuromuscular Disorders, 2019
E. Cup, S. Sezer, A. Lanser, K. Mul, J. Groothuis, B. Engelen, T. Satink, N. Voermans   +7 more
openaire   +1 more source

Targeted epigenetic repression by CRISPR/dSaCas9 suppresses pathogenic DUX4-fl expression in FSHD

Molecular Therapy - Methods and Clinical Development, 2021
Charis L Himeda, Takako I Jones, Peter L Jones   +2 more
exaly  

D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients

Cells, 2022
Valerio Caputo, Domenica Megalizzi, Carlo Fabrizio   +2 more
exaly  

Genotype-phenotype relationships in FSHD

2004
FSHD Facioscapulohumeral Muscular Dystrophy: Clinical Medidne and Molecular Cell Biology, edited by Meena Upadhyaya and David N.Cooper. © 2004 Garland/BIOS Scientific Publishers Limited, Abingdon.11.1 IntroductionFacioscapulohumeral muscular dystrophy (FSHD) is characterized by wide variation in clinical expression, both between and within families (
openaire   +1 more source

A 5-year clinical follow-up study from the Italian National Registry for FSHD

Journal of Neurology, 2020
Francesco Sera, Giulia Ricci, Luisa Villa   +2 more
exaly