Dysferlin-deficient muscular dystrophy features amyloidosis.

Dysferlin-deficient muscular dystrophy features amyloidosis.

Item
http://www.wikidata.org/entity/Q30367980
Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle releaseDysferlin-peptides reallocate mutated dysferlin thereby restoring functionComparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.Equal force recovery in dysferlin-deficient and wild-type muscles following saponin exposure.Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy.Novel diagnostic features of dysferlinopathies.ANO5-muscular dystrophy: clinical, pathological and molecular findings.Translational research and therapeutic perspectives in dysferlinopathies.Progress and challenges in diagnosis of dysferlinopathy.UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C).Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].Characterization of isolated amyloid myopathy.The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients
P2860

Dysferlin-deficient muscular dystrophy features amyloidosis.

Item
http://www.wikidata.org/entity/Q30367980
description
2008 nî lūn-bûn
@nan
2008 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մարտին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Dysferlin-deficient muscular dystrophy features amyloidosis.
@ast
Dysferlin-deficient muscular dystrophy features amyloidosis.
@en
type
label
Dysferlin-deficient muscular dystrophy features amyloidosis.
@ast
Dysferlin-deficient muscular dystrophy features amyloidosis.
@en
prefLabel
Dysferlin-deficient muscular dystrophy features amyloidosis.
@ast
Dysferlin-deficient muscular dystrophy features amyloidosis.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Dysferlin-deficient muscular dystrophy features amyloidosis.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698