(Q36677328)

15 August 2017

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B. (English)

1 reference

15 August 2017

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15

Gen Sobue

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15 August 2017

Toshiaki Takahashi

1

1 reference

15 August 2017

Masashi Aoki

2

1 reference

15 August 2017

Naoki Suzuki

3

1 reference

15 August 2017

Maki Tateyama

4

1 reference

15 August 2017

Chikako Yaginuma

5

1 reference

15 August 2017

Hitomi Sato

6

1 reference

15 August 2017

Miho Hayasaka

7

1 reference

15 August 2017

Hitomi Sugawara

8

1 reference

15 August 2017

Mariko Ito

9

1 reference

15 August 2017

Emi Abe-Kondo

10

1 reference

15 August 2017

Naoko Shimakura

11

1 reference

15 August 2017

Tohru Ibi

12

1 reference

15 August 2017

Satoshi Kuru

13

1 reference

15 August 2017

Tadashi Wakayama

14

1 reference

15 August 2017

Naoki Fujii

16

1 reference

15 August 2017

Toshio Saito

17

1 reference

15 August 2017

Tsuyoshi Matsumura

18

1 reference

15 August 2017

Itaru Funakawa

19

1 reference

15 August 2017

Eiichiro Mukai

20

1 reference

15 August 2017

Toru Kawanami

21

1 reference

15 August 2017

Mitsuya Morita

22

1 reference

15 August 2017

Mineo Yamazaki

23

1 reference

15 August 2017

Takashi Hasegawa

24

1 reference

15 August 2017

Jun Shimizu

25

1 reference

15 August 2017

Shoji Tsuji

26

1 reference

15 August 2017

Shigeki Kuzuhara

27

1 reference

15 August 2017

Hiroyasu Tanaka

28

1 reference

15 August 2017

Masaru Yoshioka

29

1 reference

15 August 2017

Hidehiko Konno

30

1 reference

15 August 2017

Hiroshi Onodera

31

1 reference

15 August 2017

Yasuto Itoyama

32

1 reference

15 August 2017

language of work or name

English

0 references

publication date

15 December 2012

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

15 August 2017

1 reference

15 August 2017

84

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15 August 2017

4

1 reference

15 August 2017

433-440

1 reference

Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

New aspects on patients affected by dysferlin deficient muscular dystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Dysferlin is a plasma membrane protein and is expressed early in human development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

A new phenotype of dysferlinopathy with congenital onset.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Analysis of the DYSF mutational spectrum in a large cohort of patients

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Dysfunction of dysferlin-deficient hearts.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Distal anterior compartment myopathy with early ankle contractures.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

A case of dysferlinopathy presenting choreic movements.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Clinical heterogeneity in dysferlinopathy

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb--girdle muscular dystrophies.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Late onset in dysferlinopathy widens the clinical spectrum

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595148

Clinical trial in Duchenne dystrophy. I. The design of the protocol

4 December 2018

1 reference

12 December 2020

[Two sisters with autosomal recessive muscular dystrophy (Miyoshi) with early involvement of limb girdle muscles]

1 reference

12 December 2020

Dysferlinopathy associated with rigid spine syndrome

1 reference

12 December 2020

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

1 reference

12 December 2020

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies

1 reference

12 December 2020

Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene

1 reference

12 December 2020

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

1 reference

12 December 2020

Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study

1 reference

12 December 2020

[A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy]

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP-2011-301339

1 reference

15 August 2017

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15 August 2017

1 reference