Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy (Q57390045)

11

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author name string

Peter Reilich

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Nicolai Schramm

2

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Peter Schneiderat

4

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Nicola Strigl-Pill

5

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Josef Müller-Höcker

6

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Wolfram Kress

7

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Andreas Ferbert

8

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Sabine Rudnik-Schöneborn

9

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Johannes Noth

10

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Joachim Weis

12

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Maggie C. Walter

Beevor's sign and facioscapulohumeral dystrophy

13

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publication date

10 February 2010

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published in

Journal of Neurology

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volume

257

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issue

7

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page(s)

1108-1118

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cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-010-5471-1

Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-010-5471-1

Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-010-5471-1

Cardiac involvement in facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

12 December 2020

Significance of Beevor's sign in facioscapulohumeral dystrophy and other neuromuscular diseases

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12 December 2020

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

1 reference

12 December 2020

Deficiency of complex III of the mitochondrial respiratory chain in a patient with facioscapulohumeral disease

1 reference

12 December 2020

Poly-Hill sign in facioscapulohumeral dystrophy

1 reference

12 December 2020

Genetic counselling in facioscapulohumeral muscular dystrophy

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12 December 2020

An inherited 4q35-EcoRI-DNA-fragment of 35 kb in a family with a sporadic case of facioscapulohumeral muscular dystrophy (FSHD)

1 reference

12 December 2020

Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI

1 reference

12 December 2020

FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement.

1 reference

12 December 2020

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

1 reference

12 December 2020

Tongue atrophy in facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

1 reference

12 December 2020

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

1 reference

12 December 2020

Atypical Phenotypes in Patients With Facioscapulohumeral Muscular Dystrophy 4q35 Deletion

1 reference

12 December 2020

[Facioscapulohumeral muscular dystrophy. The spectrum of clinical manifestations and molecular genetic changes]

1 reference

12 December 2020

A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere

1 reference

12 December 2020

Altered distribution of lamin and emerin in muscle nuclei of sIBM patients

1 reference

12 December 2020

Ethylene oxide polyneuropathy: clinical follow-up study with morphometric and electron microscopic findings in a sural nerve biopsy

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

1 reference

12 December 2020

Myotilin is mutated in limb girdle muscular dystrophy 1A

1 reference

12 December 2020

Facioscapulohumeral dystrophy presenting as infantile facial diplegia and late-onset limb-girdle myopathy in members of the same family

1 reference

12 December 2020

LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

A scapular onset muscular dystrophy without facial involvement: possible allelism with facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Clinical and histopathological heterogeneity in patients with 4q35 facioscapulohumeral muscular dystrophy (FSHD)

1 reference

12 December 2020

Physiology, pathophysiology and diagnostic significance of autophagic changes in skeletal muscle tissue--towards the enigma of rimmed and round vacuoles.

1 reference

12 December 2020

[Immunocytochemical study of the inflammatory forms of facioscapulohumeral myopathies and correlation with other types of myositis]

1 reference

12 December 2020

Differential effects of nerve, muscle, and fat tissue on regenerating nerve fibers in vivo

1 reference

12 December 2020

Adult polyglucosan body myopathy with subclinical peripheral neuropathy: case report and review of diseases associated with polyglucosan body accumulation

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy presenting with hypertrophic cardiomyopathy: a case study

1 reference

12 December 2020

Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype.

1 reference

12 December 2020

Inflammatory changes in facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy

1 reference

12 December 2020

Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease

1 reference

12 December 2020

Denervation induces a rapid nuclear accumulation of MRF4 in mature myofibers

1 reference

12 December 2020

Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases

1 reference

12 December 2020

Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein.

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions

1 reference

12 December 2020

Unusual clinical presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion

1 reference

12 December 2020

Diagnostic criteria for facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Diagnostic challenges in facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Inclusion-body myositis: muscle-fiber molecular pathology and possible pathogenic significance of its similarity to Alzheimer's and Parkinson's disease brains

1 reference

12 December 2020