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Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Nature genetics, 1998-02, Vol.18 (2), p.164-167

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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β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

Nature genetics, 1995-11, Vol.11 (3), p.257-265

1995

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

Cell, 1994-08, Vol.78 (4), p.625-633

1994

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Molecular and genetic characterization of sarcospan : insights into sarcoglycan-sarcospan interactions

Human molecular genetics, 2000-08, Vol.9 (13), p.2019-2027

2000

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Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA

Human molecular genetics, 2000-09, Vol.9 (15), p.2321-2328

2000

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Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy

Neuromuscular disorders : NMD, 1998-04, Vol.8 (2), p.119-125

1998

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Characterization of Monoclonal Antibodies to Calpain 3 and Protein Expression in Muscle from Patients with Limb-Girdle Muscular Dystrophy Type 2A

The American journal of pathology, 1998-10, Vol.153 (4), p.1169-1179

1998

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Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

Nature (London), 1992-09, Vol.359 (6393), p.320-322

1992

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Ultrastructure of muscle and neuromuscular junction: an historical survey of the early french contributions

Biology of the cell, 1994, Vol.80 (2-3), p.115-117

1994

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Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

Annals of neurology, 1999-07, Vol.46 (1), p.115-118

1999

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Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families

Brain & development (Tokyo. 1979), 1996-07, Vol.18 (4), p.316-322

1996

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Oculopharyngeal Muscular Dystrophy

Seminars in neurology, 1999, Vol.19 (1), p.59-66

1999

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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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Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36

American journal of human genetics, 1998-06, Vol.62 (6), p.1439-1445

1998

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Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

Neuromuscular disorders : NMD, 2005, Vol.15 (9), p.588-594

2005

Volltextzugriff (PDF)

Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparing

The Journal of experimental medicine, 1995-08, Vol.182 (2), p.467-475

1995

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The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13

Human molecular genetics, 1995-03, Vol.4 (3), p.429-434

1995

Volltextzugriff (PDF)

Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle

Neuromuscular disorders : NMD, 1991, Vol.1 (3), p.185-194

1991

Volltextzugriff (PDF)

Hereditary inclusion body myopathies

Current opinion in neurology, 1998-10, Vol.11 (5), p.453-459

1998

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Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12

FEBS letters, 1996-02, Vol.381 (1), p.15-20

1996

Volltextzugriff (PDF)

Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis

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

1997

Volltextzugriff (PDF)

Oppenheim's myatonia congenita

Neuropediatrics, 2001-04, Vol.32 (2), p.57

2001

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin

The Journal of clinical investigation, 1993-08, Vol.92 (2), p.866-871

1993

Volltextzugriff (PDF)

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Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

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

β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

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

Molecular and genetic characterization of sarcospan : insights into sarcoglycan-sarcospan interactions

Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA

Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy

Characterization of Monoclonal Antibodies to Calpain 3 and Protein Expression in Muscle from Patients with Limb-Girdle Muscular Dystrophy Type 2A

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

Ultrastructure of muscle and neuromuscular junction: an historical survey of the early french contributions

Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families

Oculopharyngeal Muscular Dystrophy

Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy

Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36

Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparing

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13

Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle

Hereditary inclusion body myopathies

Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12

Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis

Oppenheim's myatonia congenita

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

Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin

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