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SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

Neurology, 2011-01, Vol.76 (3), p.219-226

2011

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Adiposity attenuates muscle quality and the adaptive response to resistance exercise in non-obese, healthy adults

International Journal of Obesity, 2011-08, Vol.35 (8), p.1095-1103

2011

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Early onset of inflammation and later involvement of TGFβ in Duchenne muscular dystrophy

Neurology, 2005-09, Vol.65 (6), p.826-834

2005

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MeCP2 mutations in children with and without the phenotype of Rett syndrome

Neurology, 2001-06, Vol.56 (11), p.1486-1495

2001

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Regenerated mdx mouse skeletal muscle shows differential mRNA expression

Journal of applied physiology (1985), 2002-08, Vol.93 (2), p.537-545

2002

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Leptin and leptin receptor genetic variants associate with habitual physical activity and the arm body composition response to resistance training

Gene, 2012-11, Vol.510 (1), p.66-70

2012

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Molecular findings in symptomatic and pre-symptomatic Alexander disease patients

Neurology, 2002-05, Vol.58 (10), p.1494-1500

2002

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Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

Neurology, 2002-02, Vol.58 (4), p.593-602

2002

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Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation

Neurology, 2004-03, Vol.62 (6), p.878-882

2004

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The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy

Journal of neurology, neurosurgery and psychiatry, 2006-10, Vol.77 (10), p.1177-1179

2006

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A new locus for hemiplegic migraine maps to chromosome 1q31

Neurology, 1997-11, Vol.49 (5), p.1231-1238

1997

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Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder

Neurology, 2008-06, Vol.70 (23), p.2226-2232

2008

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Molecular cloning, structure, and chromosomal localization of the human inducible nitric oxide synthase gene

The Journal of biological chemistry, 1994-03, Vol.269 (9), p.6765-6772

1994

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β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

Nature genetics, 1995-11, Vol.11 (3), p.266-273

1995

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Skeletal muscle dictates the fibrinolytic state after exercise training in overweight men with characteristics of metabolic syndrome

The Journal of physiology, 2003-04, Vol.548 (2), p.401-410

2003

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Delivery of α- and β-sarcoglycan by recombinant adeno-associated virus: Efficient rescue of muscle, but differential toxicity

Human gene therapy, 2002-09, Vol.13 (13), p.1631-1646

2002

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The clinical spectrum of sarcoglycanopathies

Neurology, 1999-01, Vol.52 (1), p.176-176

1999

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Caveolin-3 in Muscular Dystrophy

Human molecular genetics, 1998-05, Vol.7 (5), p.871-877

1998

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Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

Muscle & nerve, 1999-04, Vol.22 (4), p.473-479

1999

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rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy

Gene therapy, 1999, Vol.6 (1), p.74-82

1999

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Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage

Human molecular genetics, 2014-08, Vol.23 (15), p.4043-4050

2014

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Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle

Neurology, 2004-04, Vol.62 (7), p.1097-1104

2004

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Rett Syndrome: Confirmation of X-Linked Dominant Inheritance, and Localization of the Gene to Xq28

American journal of human genetics, 1998-11, Vol.63 (5), p.1552-1557

1998

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Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts

Nature (London), 1989-01, Vol.337 (6203), p.176-179

1989

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

Cell, 1987-07, Vol.50 (3), p.509-517

1987

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SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

Adiposity attenuates muscle quality and the adaptive response to resistance exercise in non-obese, healthy adults

Early onset of inflammation and later involvement of TGFβ in Duchenne muscular dystrophy

MeCP2 mutations in children with and without the phenotype of Rett syndrome

Regenerated mdx mouse skeletal muscle shows differential mRNA expression

Leptin and leptin receptor genetic variants associate with habitual physical activity and the arm body composition response to resistance training

Molecular findings in symptomatic and pre-symptomatic Alexander disease patients

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation

The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy

A new locus for hemiplegic migraine maps to chromosome 1q31

Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder

Molecular cloning, structure, and chromosomal localization of the human inducible nitric oxide synthase gene

β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

Skeletal muscle dictates the fibrinolytic state after exercise training in overweight men with characteristics of metabolic syndrome

Delivery of α- and β-sarcoglycan by recombinant adeno-associated virus: Efficient rescue of muscle, but differential toxicity

The clinical spectrum of sarcoglycanopathies

Caveolin-3 in Muscular Dystrophy

Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy

Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage

Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle

Rett Syndrome: Confirmation of X-Linked Dominant Inheritance, and Localization of the Gene to Xq28

Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts

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

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