Congenital myopathies: Natural history of a large pediatric cohort.

Congenital myopathies: Natural history of a large pediatric cohort.

Item
http://www.wikidata.org/entity/Q35106557
Mutation-specific effects on thin filament length in thin filament myopathy.Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.A natural history study of X-linked myotubular myopathy.RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.Clinical course of growth in patients with congenital neuromuscular disease in a single multidisciplinary neuromuscular clinic.Prenatal diagnosis of congenital myopathies and muscular dystrophies.Sarcomere Dysfunction in Nemaline Myopathy.Noninvasive Assessment of Neuromuscular Disease in Dogs: Use of the 6-minute Walk Test to Assess Submaximal Exercise Tolerance in Dogs with Centronuclear Myopathy.Establishing prevalence in rare neuromuscular diseases: A lesson from congenital myopathies.Congenital myopathies: clinical phenotypes and new diagnostic tools.An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.Treating pediatric neuromuscular disorders: The future is now.Correlation of phenotype with genotype and protein structure in RYR1-related disorders
P2860

Congenital myopathies: Natural history of a large pediatric cohort.

Item
http://www.wikidata.org/entity/Q35106557
description
2014 nî lūn-bûn
@nan
2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Congenital myopathies: Natural history of a large pediatric cohort.
@ast
Congenital myopathies: Natural history of a large pediatric cohort.
@en
type
label
Congenital myopathies: Natural history of a large pediatric cohort.
@ast
Congenital myopathies: Natural history of a large pediatric cohort.
@en
prefLabel
Congenital myopathies: Natural history of a large pediatric cohort.
@ast
Congenital myopathies: Natural history of a large pediatric cohort.
@en
P1433
P1476
P2093
P2860
P304
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P356
P407
P433
P478
P50
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P5875
P698
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P1476
Congenital myopathies: Natural history of a large pediatric cohort.
@en
P2093
P2860
P304
P31
P356
10.1212/WNL.0000000000001110
P407
P433
P478
P50
P577
P5875
P698
P921
P932