The 10 autosomal recessive limb-girdle muscular dystrophies.
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A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophyLimb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B.A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy.Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China.Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?Congenital diseases of feline muscle and neuromuscular junction.Preclinical studies with umbilical cord mesenchymal stromal cells in different animal models for muscular dystrophy.Phenotypic and immunohistochemical characterization of sarcoglycanopathies.Limb-girdle muscular dystrophy with obesity for elective cesarean section: Anesthetic management and brief review of the literature.Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.Differential expression profiling between the relative normal and dystrophic muscle tissues from the same LGMD patient.Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism.Lessons from the genome sequence of Neurospora crassa: tracing the path from genomic blueprint to multicellular organism.Membrane traffic in skeletal muscle.A Haplotype of Two Novel Polymorphisms in δ-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid PopulationMutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.Normal vaginal delivery in a patient with autosomal recessive limb-girdle muscular dystrophy.Neuromuscular disorders: genes, genetic counseling and therapeutic trialsTherapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies.S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes.Progress and challenges in diagnosis of dysferlinopathy.Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene.A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.Management of neuromuscular diseases and spinal muscular atrophy in Latin America.The relative frequency of common neuromuscular diagnoses in a reference center.Phenotypic Variability of Dystrophinopathy Symptomatic Female Carriers.Human multipotent adipose-derived stem cells restore dystrophin expression of Duchenne skeletal-muscle cells in vitro.FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 geneAsymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum
P2860
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P2860
The 10 autosomal recessive limb-girdle muscular dystrophies.
description
2003 nî lūn-bûn
@nan
2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
The 10 autosomal recessive limb-girdle muscular dystrophies.
@ast
The 10 autosomal recessive limb-girdle muscular dystrophies.
@en
type
label
The 10 autosomal recessive limb-girdle muscular dystrophies.
@ast
The 10 autosomal recessive limb-girdle muscular dystrophies.
@en
prefLabel
The 10 autosomal recessive limb-girdle muscular dystrophies.
@ast
The 10 autosomal recessive limb-girdle muscular dystrophies.
@en
P50
P1476
The 10 autosomal recessive limb-girdle muscular dystrophies.
@en
P2093
Alessandra Starling
P304
P356
10.1016/S0960-8966(03)00100-7
P577
2003-09-01T00:00:00Z