Top 20 of Muscular Dystrophies

Article title # Publications/# Citations

Dystrophin: the protein product of the Duchenne muscular dystrophy locus.

1987: RHBrown; EPHoffman; LMKunkel;

565

Easy calculations of lod scores and genetic risks on small computers.

1984: JMLalouel; GMLathrop;

396

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

1987: CJBertelson; CFeener; EPHoffman; MKoenig; LMKunkel; APMonaco;

333

Muscle regeneration by bone marrow-derived myogenic progenitors.

1998: MColetta; GCossu; GCusella-De Angelis; GFerrari; FMavilio; EPaolucci; AStornaiuolo;

277

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.

1988: MKoenig; LMKunkel; APMonaco;

257

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy.

1999: MAnver; NBhat; HBhatt; BBurke; DEscalante-Alcalde; KNagashima; CLStewart; TSullivan;

252

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

1992: KPCampbell; JMErvasti; OIbraghimov-Beskrovnaya; CJLeveille; SWSernett; CASlaughter;

214

The nuclear lamina comes of age.

2005: RDGoldman; YGruenbaum; AMargalit; DKShumaker; KLWilson;

208

Function and genetics of dystrophin and dystrophin-related proteins in muscle.

2002: DJBlake; KEDavies; SENewey; AWeir;

181

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.

2002: RBarresi; KPCampbell; RDCohn; JDollar; MKanagawa; RIKelley; KDMathews; DEMichele; ... SAMoore; INishino; FSaito; JSSatz; HSomer; VStraub;

172

Defective membrane repair in dysferlin-deficient muscular dystrophy.

2003: DBansal; KPCampbell; CCChen; SGroh; PLMcNeil; KMiyake; SSVogel; RWilliamson;

166

The muscular dystrophies.

2002: AEEmery;

158

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

1988: CJBertelson; LMKunkel; SLiechti-Gallati; APMonaco; HMoser;

150

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

1999: HMBécane; GBonne; MRDi Barletta; DDuboc; MFardeau; FGary; CRGreenberg; EHHammouda; ... LMerlini; FMuntoni; KSchwartz; DToniolo; JAUrtizberea; SVarnous;

150

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

1986 Oct 16-22: CJBertelson; CColletti-Feener; LMKunkel; DMKurnit; APMonaco; RLNeve;

145

Skeletal muscle-specific ablation of raptor, but not of rictor, causes metabolic changes and results in muscle dystrophy.

2008: CFBentzinger; MBrink; ECasanova; DCloëtta; CFCosta; MNHall; SLin; JBMascarenhas; ... FOliveri; KRomanino; MARuegg; JXia; FZorzato;

135

Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle.

1990: KPCampbell; JMErvasti; MGGaver; SDKahl; KOhlendieck;

134

Signaling pathways in skeletal muscle remodeling.

2006: RBassel-Duby; ENOlson;

133

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.

1995: VAllamand; NBourg; LBrenguier; OBroux; NChiannilkulchai; CDevaud; FFougerousse; PPasturaud; IRichard; CRoudaut;

131

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification.

1988: CTCaskey; JSChamberlain; RAGibbs; PNNguyen; JERanier;

129