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Clinical features of facioscapulohumeral muscular dystrophy 2.

著者

Pilar Camaño

この作品が含まれる作品: 神経学

出版日: 2010-10-01

言語: 英語

main subject: 顔面肩甲上腕型筋萎縮症

Cites articles 23

Date

タイトル

著者

2009-10-01

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

サブリナ・サッコーニ, Silvère M van der Maarel
2009-07-10

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

Keith D. Robertson, Silvère M van der Maarel
2009-08-01

Quality of life and pain in patients with facioscapulohumeral muscular dystrophy

Irene Aprile, Sonia Messina, Luca Padua, Enzo Ricci
2009-10-17

Beevor's sign in facioscapulohumeral muscular dystrophy: an old sign with new implications
2007-11

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

Peter de Knijff
2007-09-01

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD

On Ying A Chan
2005-06-01

Significance of Beevor's sign in facioscapulohumeral dystrophy and other neuromuscular diseases
2005-10-01

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

Enzo Ricci, Silvère M van der Maarel, Marc Jeanpierre
2004-02-01

Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype

マヤナ・ザッツ
2004-01-01

Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)

Sergio Russo Matioli
2003-11-23

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

Gert-Jan van Ommen, Silvère M van der Maarel
2003-10-01

Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles
2002-09-23

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

Gert-Jan van Ommen, Lodewijk Sandkuijl, Silvère M van der Maarel
2000-01-01

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.
1999-06-01

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.
1998-05-01

The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females.

マヤナ・ザッツ, Mariz Vainzof
1996-06-01

Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group.
1995-05-01

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
1995-01-01

On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy

Cisca Wijmenga
1994-03-01

Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing. FSH-DY Group
1993

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

George W. Padberg
1992-09

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Cisca Wijmenga
1991-01-01

Diagnostic criteria for facioscapulohumeral muscular dystrophy

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