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Approaches to the treatment of mitochondrial diseases

Muscle & nerve, 2006-09, Vol.34 (3), p.265-283

2006

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Myopathy and parkinsonism in phosphoglycerate kinase deficiency

Muscle & nerve, 2010-05, Vol.41 (5), p.707-710

2010

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Muscle glycogenoses

Muscle & nerve, 2001-08, Vol.24 (8), p.984-999

2001

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A myopathy with unusual features caused by PNPLA2 gene mutations

Muscle & nerve, 2015-04, Vol.51 (4), p.609-613

2015

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POLG1 Arg953Cys mutation: Expanded phenotype and recessive inheritance in a Brazilian family

Muscle & nerve, 2012-03, Vol.45 (3), p.453-454

2012

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MERRF and Kearns–Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation

Muscle & nerve, 2011-09, Vol.44 (3), p.448-451

2011

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Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene

Muscle & nerve, 2014-08, Vol.50 (2), p.292-295

2014

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MERRF and Kearns-Sayre overlap syndrome due to the mtDNA m.3291T>C mutation

Muscle & nerve, 2011-09, Vol.44 (3), p.448-451

2011

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Mitochondrial abnormalities in muscle and other aging cells: Classification, causes, and effects

Muscle & nerve, 2002-11, Vol.26 (5), p.597-607

2002

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Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency

Muscle & nerve, 1995, Vol.18 (S14), p.S50-S53

1995

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Benign course of glycogen storage disease type IIb in two brothers: Nature or nurture?

Muscle & nerve, 2006-04, Vol.33 (4), p.571-574

2006

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Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency

Muscle & nerve, 2006-11, Vol.34 (5), p.572-576

2006

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Adult polyglucosan body disease: A case report of a manifesting heterozygote

Muscle & nerve, 2005-11, Vol.32 (5), p.675-681

2005

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High serum levels of creatine kinase: Asymptomatic prelude to distal myopathy

Muscle & nerve, 1987-05, Vol.10 (4), p.346-350

1987

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Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutse deficiency

Muscle & nerve, 2006, Vol.34 (5), p.572-576

2006

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The molecular genetic basis of myophosphorylase deficiency (McArdle's disease)

Muscle & nerve, 1995, Vol.18 (S14), p.S23-S27

1995

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Analysis of mtDNA deletions in muscle by in situ hybridization

Muscle & nerve, 2000-01, Vol.23 (1), p.80-85

2000

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Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred

Muscle & nerve, 1996-09, Vol.19 (9), p.1134-1137

1996

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A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact

Muscle & nerve, 1999-08, Vol.22 (8), p.1136-1138

1999

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Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency

Muscle & nerve, 1995, Vol.18 (S14), p.S45-S49

1995

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Ekbom's syndrome: Lipomas, ataxia, and neuropathy with MERRF

Muscle & nerve, 1994-08, Vol.17 (8), p.943-945

1994

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Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction

Muscle & nerve, 1998-11, Vol.21 (11), p.1374-1381

1998

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Adult acid maltase deficiency

Muscle & nerve, 1993-06, Vol.16 (6), p.672-676

1993

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Molecular genetic studies in muscle phosphoglycerate mutase (PGAM‐M) deficiency

Muscle & nerve, 1995, Vol.18 (S14), p.S50-S53

1995

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Biochemical and genetic studies in a family with mitochondrial myopathy

Muscle & nerve, 1997-10, Vol.20 (10), p.1219-1224

1997

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Approaches to the treatment of mitochondrial diseases

Myopathy and parkinsonism in phosphoglycerate kinase deficiency

Muscle glycogenoses

A myopathy with unusual features caused by PNPLA2 gene mutations

POLG1 Arg953Cys mutation: Expanded phenotype and recessive inheritance in a Brazilian family

MERRF and Kearns–Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation

Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene

MERRF and Kearns-Sayre overlap syndrome due to the mtDNA m.3291T>C mutation

Mitochondrial abnormalities in muscle and other aging cells: Classification, causes, and effects

Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency

Benign course of glycogen storage disease type IIb in two brothers: Nature or nurture?

Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency

Adult polyglucosan body disease: A case report of a manifesting heterozygote

High serum levels of creatine kinase: Asymptomatic prelude to distal myopathy

Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutse deficiency

The molecular genetic basis of myophosphorylase deficiency (McArdle's disease)

Analysis of mtDNA deletions in muscle by in situ hybridization

Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred

A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact

Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency

Ekbom's syndrome: Lipomas, ataxia, and neuropathy with MERRF

Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction

Adult acid maltase deficiency

Molecular genetic studies in muscle phosphoglycerate mutase (PGAM‐M) deficiency

Biochemical and genetic studies in a family with mitochondrial myopathy

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