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Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

Human molecular genetics, 2005-01, Vol.14 (1), p.155-169

2005

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Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

American journal of human genetics, 2002-08, Vol.71 (2), p.426-431

2002

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Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin α2-chain in congenital muscular dystrophy with partial deficiency of the protein

American journal of human genetics, 1996, Vol.58 (6), p.1177-1184

1996

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Cationic lipid-mediated gene transfer : Analysis of cellular uptake and nuclear import of plasmid DNA

Cell biology and toxicology, 1998-03, Vol.14 (2), p.95-104

1998

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Mutations in the laminin α2-chain gene ( LAMA2 ) cause merosin-deficient congenital muscular dystrophy

Nature genetics, 1995-10, Vol.11 (2), p.216-218

1995

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Emery-Dreifuss muscular dystrophy

European journal of human genetics : EJHG, 2002-03, Vol.10 (3), p.157-161

2002

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Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings

Neuromuscular disorders : NMD, 1998-05, Vol.8 (3), p.169-174

1998

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Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy

Neuromuscular disorders : NMD, 1997-10, Vol.7, p.S63-S69

1997

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Sex ratio among the offspring of BRCA mutation carriers

JAMA : the journal of the American Medical Association, 2004-08, Vol.292 (6), p.687

2004

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Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein

American journal of human genetics, 1996-06, Vol.58 (6), p.1177-1184

1996

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Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

Nature genetics, 1995-10, Vol.11 (2), p.216-218

1995

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Cellular uptake of cationic lipid/DNA complexes by cultured myoblasts and myotubes

Biochimica et biophysica acta, 1999-04, Vol.1418 (1), p.165-175

1999

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PCR based mutation screening of the laminin α2 chain gene (LAMA2) : application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy

Journal of medical genetics, 1998, Vol.35 (3), p.211-217

1998

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Refinement of the laminin α2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy

Journal of medical genetics, 1997, Vol.34 (2), p.99-104

1997

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66 Echocardiographic assessment of left ventricular function in mouse model of Emery-Dreifuss muscular dystrophy carrying a LMNA mutation

European journal of heart failure. Supplements, 2003-06, Vol.2 (Suppl_1), p.4-5

2003

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The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy

Human genetics, 1997-04, Vol.99 (4), p.535-540

1997

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Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha 2-chain in congenital muscular dystrophy with partial deficiency of the protein

American journal of human genetics, 1996, Vol.58 (6), p.1177-1184

1996

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Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2

Comptes rendus de l'Académie des sciences, Série III, Sciences de la vie, 1995-12, Vol.318 (12), p.1245

1995

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Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis

Neuromuscular disorders : NMD, 1997-05, Vol.7 (3), p.180-186

1997

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Abnormal proteins in congenital muscular dystrophies

Neuromuscular disorders : NMD, 1996-03, Vol.6 (2), p.S17-S17

1996

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Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI

Neuromuscular disorders : NMD, 1997-09, Vol.7 (6-7), p.429

1997

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Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy

Journal of medical genetics, 1997-02, Vol.34 (2), p.99-104

1997

Volltextzugriff (PDF)

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy

Journal of medical genetics, 1998-03, Vol.35 (3), p.211-217

1998

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SMC5/6 acts jointly with Fanconi anemia factors to support DNA repair and genome stability

EMBO reports, 2020-02, Vol.21 (2), p.e48222-n/a

2020

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Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis

Revue neurologique, 1996-01, Vol.152 (1), p.11-19

1996

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Muscular Dystrophies - Genetics
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Laminin - Deficiency
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Laminin - Genetics
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Diseases Of Striated Muscles. Neuromuscular Diseases
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Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin α2-chain in congenital muscular dystrophy with partial deficiency of the protein

Cationic lipid-mediated gene transfer : Analysis of cellular uptake and nuclear import of plasmid DNA

Mutations in the laminin α2-chain gene ( LAMA2 ) cause merosin-deficient congenital muscular dystrophy

Emery-Dreifuss muscular dystrophy

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings

Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy

Sex ratio among the offspring of BRCA mutation carriers

Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

Cellular uptake of cationic lipid/DNA complexes by cultured myoblasts and myotubes

PCR based mutation screening of the laminin α2 chain gene (LAMA2) : application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy

Refinement of the laminin α2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy

66 Echocardiographic assessment of left ventricular function in mouse model of Emery-Dreifuss muscular dystrophy carrying a LMNA mutation

The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy

Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha 2-chain in congenital muscular dystrophy with partial deficiency of the protein

Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2

Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis

Abnormal proteins in congenital muscular dystrophies

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy

SMC5/6 acts jointly with Fanconi anemia factors to support DNA repair and genome stability

Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis

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