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A Point Mutation in the 5′ Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy

Human molecular genetics, 1996-01, Vol.5 (1), p.73-79

1996

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Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy

Heart (British Cardiac Society), 1997-12, Vol.78 (6), p.608-612

1997

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Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families

European journal of paediatric neurology, 1998, Vol.2 (5), p.255-261

1998

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Brief report : deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy

The New England journal of medicine, 1993-09, Vol.329 (13), p.921-925

1993

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Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online

Human mutation, 1998, Vol.12 (1), p.70-70

1998

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X-linked dilated cardiomyopathy and the dystrophin gene

Neuromuscular disorders : NMD, 1999-07, Vol.9 (5), p.339-346

1999

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Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy

Journal of neurology, neurosurgery and psychiatry, 1993-01, Vol.56 (1), p.26-31

1993

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Diagnosis of DMD Carrier Status in a Family with No Known Affected Males

Developmental medicine and child neurology, 1993-01, Vol.35 (1), p.70-73

1993

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Muscular weakness in the mdx mouse

Journal of the neurological sciences, 1993-12, Vol.120 (1), p.71-77

1993

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Passive avoidance behaviour deficit in the mdx mouse

Neuromuscular disorders : NMD, 1991, Vol.1 (2), p.121-123

1991

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Novel nonsense mutation (C→A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

Human mutation, 1998, Vol.11 (S1), p.S137-S138

1998

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Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments

Neuromuscular disorders : NMD, 1994-05, Vol.4 (3), p.233-241

1994

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Dilated cardiomyopathy and muscular dystrophies: which lesson can be learned?

Cardiologia (Rome, Italy), 1999-12, Vol.44 Suppl 1 (Pt 1), p.209

1999

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Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

Human mutation, 1998-01, Vol.Suppl 1, p.S137-S138

1998

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Two novel mutations (10410 T→G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation

Human mutation, 1998, Vol.12 (1), p.70-70

1998

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A novel non sense mutation in exon 72 of the dystrophin gene producing exon skipping in a bmd patient

Neuromuscular disorders : NMD, 1996-03, Vol.6 (2), p.S12-S12

1996

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Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier

Clinical genetics, 1992-07, Vol.42 (1), p.35-38

1992

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Study of the DNA binding mechanism and in vitro activity against cancer cells of iron(III) and aluminium(III) kojic acid derivative complexes

Dalton transactions : an international journal of inorganic chemistry, 2022-04, Vol.51 (16), p.6254-6263

2022

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Thymosin β4 cytoplasmic/nuclear translocation as a new marker of cellular stress. A Caco2 case study

RSC advances, 2020-03, Vol.1 (21), p.1268-12688

2020

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Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations

Muscle & nerve, 2013-08, Vol.48 (2), p.161-170

2013

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Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5

Muscle & nerve, 2011-05, Vol.43 (5), p.688-693

2011

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Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations

Muscle & nerve, 2010-04, Vol.41 (4), p.458-463

2010

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Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations: LMNA and Muscle Disease

Muscle & nerve, 2013-08, Vol.48 (2), p.161-170

2013

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A new deletion in 5′-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers

Gene, 2012-12, Vol.511 (2), p.437-440

2012

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Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin

Muscle & nerve, 2014-06, Vol.49 (6), p.928-930

2014

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A Point Mutation in the 5′ Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy

Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy

Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families

Brief report : deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy

Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online

X-linked dilated cardiomyopathy and the dystrophin gene

Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy

Diagnosis of DMD Carrier Status in a Family with No Known Affected Males

Muscular weakness in the mdx mouse

Passive avoidance behaviour deficit in the mdx mouse

Novel nonsense mutation (C→A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments

Dilated cardiomyopathy and muscular dystrophies: which lesson can be learned?

Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

Two novel mutations (10410 T→G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation

A novel non sense mutation in exon 72 of the dystrophin gene producing exon skipping in a bmd patient

Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier

Study of the DNA binding mechanism and in vitro activity against cancer cells of iron(III) and aluminium(III) kojic acid derivative complexes

Thymosin β4 cytoplasmic/nuclear translocation as a new marker of cellular stress. A Caco2 case study

Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations

Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5

Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations

Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations: LMNA and Muscle Disease

A new deletion in 5′-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers

Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin

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