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Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy

Data up to Jan 2025

Published1995
Citations497
References25
Clinical Trials (1)

Total Citations Per Year

Abstract

References (25)

Dystrophin: The protein product of the duchenne muscular dystrophy locus

1987 • 4,477 citations

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1987 • 2,353 citations

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

1992 • 1,381 citations

Membrane organization of the dystrophin-glycoprotein complex

1991 • 1,321 citations

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

1986 • 1,033 citations

Glycoprotein Complex Anchoring Dystrophin to Sarcolemma1

1990 • 500 citations

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

1994 • 459 citations

A cDNA clone from the Duchenne/Becker muscular dystrophy gene

1987 • 261 citations

Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n‐octyl β‐<scp>d</scp>‐glucoside

1994 • 212 citations

Glycoprotein‐binding site of dystrophin is confined to the cysteine‐rich domain and the first half of the carboxy‐terminal domain

1992 • 210 citations

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

1995 • 192 citations

Analysis of the actin-binding domain of alpha-actinin by mutagenesis and demonstration that dystrophin contains a functionally homologous domain.

1992 • 182 citations

Severe childhood muscular dystrophy affecting both sexes and frequent in tunisia

1983 • 179 citations

30th and 31st ENMC international workshops, Naarden, The Netherlands, Held 6–8 January 1995

1995 • 170 citations

The interaction of actin with dystrophin

1990 • 104 citations

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12

1993 • 100 citations

Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.

1994 • 93 citations

Selective Defect of Sarcoglycan Complex in Severe Childhood Autosomal Recessive Muscular Dystrophy Muscle

1994 • 72 citations

A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy

1995 • 68 citations

Expression of Dystrophin-Associated Protein 35DAG (A4) and 50DAG (A2) Is Confined to Striated Muscles1

1994 • 59 citations

Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin

1995 • 51 citations

Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance

1989 • 44 citations

Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa.

1994 • 30 citations

Duchenne-like muscular dystrophy in the Arabs

1990 • 14 citations

Abstracts for the committee on the genetic constitution of chromosome 6

1991 • 4 citations

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Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular… (1995) – Science | Metascience Observatory Explorer