(Q35985502)

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Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes

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20 January 2020

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes (English)

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20 January 2020

1 reference

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inferred from title

rippling muscle disease

1 reference

based on heuristic

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1 reference

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1

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20 January 2020

3

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20 January 2020

Corrado Angelini

7

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20 January 2020

Rossella Tupler

9

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20 January 2020

Gabriele Siciliano

10

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20 January 2020

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Isabella Scionti

2

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20 January 2020

Leda Volpi

4

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20 January 2020

Virna Zampa

5

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20 January 2020

Marina Fanin

6

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20 January 2020

Luisa Politano

8

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20 January 2020

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14 January 2012

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20 January 2020

Neuromuscular Disorders

1 reference

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20 January 2020

22

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20 January 2020

6

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20 January 2020

534-540

1 reference

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20 January 2020

A unifying genetic model for facioscapulohumeral muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

Caveolinopathies: from the biology of caveolin-3 to human diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

Localization of f-channels to caveolae mediates specific beta2-adrenergic receptor modulation of rate in sinoatrial myocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

Localization of cardiac L-type Ca(2+) channels to a caveolar macromolecular signaling complex is required for beta(2)-adrenergic regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

Caveolae modulate excitation-contraction coupling and beta2-adrenergic signalling in adult rat ventricular myocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

Molecular and muscle pathology in a series of caveolinopathy patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

Caveolae and caveolin-3 in muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

A molecular dissection of caveolin-1 membrane attachment and oligomerization. Two separate regions of the caveolin-1 C-terminal domain mediate membrane binding and oligomer/oligomer interactions in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

Facioscapulohumeral muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

The membrane-spanning domains of caveolins-1 and -2 mediate the formation of caveolin hetero-oligomers. Implications for the assembly of caveolae membranes in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

Caveolae and caveolins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

VIP21-caveolin, a membrane protein constituent of the caveolar coat, oligomerizes in vivo and in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

2 October 2017

Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

11 July 2018

Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

24 September 2018

Asymptomatic elevation of serum creatine kinase leading to the diagnosis of 4q35 facioscapulohumeral muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

24 September 2018

Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

24 September 2018

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

24 September 2018

Phenotypic variability associated with Arg26Gln mutation in caveolin3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

24 September 2018

Limb-girdle muscular dystrophy (LGMD-1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation. Treatment with proteasomal inhibitors blocks the dominant negative effect of LGMD-1C mutanta and rescues wild-type caveolin-3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359497

14 November 2018

Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Facioscapulohumeral muscular dystrophy presenting with hypertrophic cardiomyopathy: a case study

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immune-mediated rippling muscle disease: another inflammatory myopathy in myasthenia gravis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bedside diagnosis of rippling muscle disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Grading of muscle power: comparison of MRC and analogue scales by physiotherapists. Medical Research Council

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic criteria for facioscapulohumeral muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked and FSH dystrophies in one family

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proportion of 11778 mutant mitochondrial DNA and clinical expression in a thai population with leber hereditary optic neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Caveolinopathy--new mutations and additional symptoms

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Camptocormia phenotype of FSHD: a clinical and MRI study on six patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Facioscapulohumeral muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical Phenotypes in Patients With Facioscapulohumeral Muscular Dystrophy 4q35 Deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/22245016

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.NMD.2011.12.001

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22245016%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22245016%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22245016%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

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