Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association o (Q34386584)

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English	Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association o	scientific article

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scholarly article

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1 August 2017

Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association o (English)

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Europe PubMed Central

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1 August 2017

author name string

Pushpa Narayanaswami

1

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1 August 2017

Michael Weiss

2

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1 August 2017

Duygu Selcen

3

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1 August 2017

William David

4

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1 August 2017

Elizabeth Raynor

5

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1 August 2017

Gregory Carter

6

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1 August 2017

Matthew Wicklund

7

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1 August 2017

Richard J Barohn

8

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1 August 2017

Erik Ensrud

9

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1 August 2017

Robert C Griggs

10

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1 August 2017

Gary Gronseth

11

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1 August 2017

Anthony A Amato

12

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1 August 2017

Guideline Development Subcommittee of the American Academy of Neurology

13

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Europe PubMed Central

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1 August 2017

Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine

14

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1 August 2017

language of work or name

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publication date

1 October 2014

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1 August 2017

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1 August 2017

83

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1 August 2017

16

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1 August 2017

1453-1463

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1 August 2017

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Epidemiology of progressive muscular dystrophy in Okinawa, Japan. Classification with molecular biological techniques

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

6 July 2018

Consequences of mutations within the C terminus of the FHL1 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

27 October 2018

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

27 October 2018

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

27 October 2018

Screening for C283Y gamma-sarcoglycan mutation in a high-risk group of Bulgarian Gypsies: evidence for a geographical localization and a non-random distribution among Gypsy subgroups

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

27 October 2018

On the classification, natural history and treatment of the myopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

27 October 2018

The limb-girdle muscular dystrophies--proposal for a new nomenclature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

27 October 2018

C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

9 December 2018

NOVEL FHL1 MUTATIONS IN FATAL AND BENIGN REDUCING BODY MYOPATHY

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

9 December 2018

Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206155

9 December 2018

Prevalence and incidence of Becker muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25313375

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The frequency of patients with dystrophin abnormalities in a limb-girdle patient population

1 reference

https://pubmed.ncbi.nlm.nih.gov/25313375

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/25313375

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation

1 reference

https://pubmed.ncbi.nlm.nih.gov/25313375

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/25313375

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/25313375

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/25313375

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1212/WNL.0000000000000892

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Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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