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Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy

Muscle & nerve, 2014-08, Vol.50 (2), p.250-256

2014

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Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation

Neurology, 2007-03, Vol.68 (10), p.772

2007

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Early onset cardiomyopathy in females with Danon disease

Neuromuscular disorders : NMD, 2015-06, Vol.25 (6), p.493-501

2015

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A multinational study on motor function in early-onset FSHD

Neurology, 2018-04, Vol.90 (15), p.e1333

2018

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Effects of a R133W β‐tropomyosin mutation on regulation of muscle contraction in single human muscle fibres

The Journal of physiology, 2007-06, Vol.581 (3), p.1283-1292

2007

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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Brain (London, England : 1878), 2009-11, Vol.132 (11), p.3165-3174

2009

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Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

Neuromuscular disorders : NMD, 2006-12, Vol.16 (12), p.830-838

2006

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Novel mutations in the thymidine kinase 2 gene ( TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion

Neuromuscular disorders : NMD, 2005-06, Vol.15 (6), p.412-415

2005

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Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I

European journal of paediatric neurology, 2007-11, Vol.11 (6), p.353-357

2007

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A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis

Neurology, 2006-08, Vol.67 (4), p.597

2006

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Early onset myopathy with a novel mutation in the Selenoprotein N gene ( SEPN1)

Neuromuscular disorders : NMD, 2005-04, Vol.15 (4), p.299-302

2005

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Two new mutations in the MTATP6 gene associated with Leigh syndrome

Neuropediatrics, 2005-10, Vol.36 (5), p.314

2005

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Progressive encephalopathy and complex I deficiency associated with mutations in MTND1

Neuropediatrics, 2008-02, Vol.39 (1), p.24

2008

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Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene

Neuromuscular disorders : NMD, 2006-08, Vol.16 (8), p.504-506

2006

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Whole body vibration therapy in patients with Duchenne muscular dystrophy--a prospective observational study

Journal of musculoskeletal & neuronal interactions, 2013-03, Vol.13 (1), p.13-18

2013

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EEG findings in children and adolescents with mitochondrial encephalomyopathies: A study of 25 cases

Brain & development (Tokyo. 1979), 1991-05, Vol.13 (3), p.167-173

1991

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Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally

Archives of neurology (Chicago), 2008-08, Vol.65 (8), p.1083

2008

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Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres

Neuromuscular disorders : NMD, 1998-06, Vol.8 (5), p.345-349

1998

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Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

Acta neuropathologica, 1995, Vol.90 (3), p.328-333

1995

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Early-onset myopathy with tubular aggregates

Pediatric neurology, 1996-07, Vol.15 (1), p.68-71

1996

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Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres

Journal of the neurological sciences, 1992-07, Vol.110 (1), p.169-177

1992

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Mitochondrial myopathy and cardiomyopathy in siblings

Pediatric neurology, 1989-05, Vol.5 (3), p.182-189

1989

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Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy

Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation

Early onset cardiomyopathy in females with Danon disease

A multinational study on motor function in early-onset FSHD

Effects of a R133W β‐tropomyosin mutation on regulation of muscle contraction in single human muscle fibres

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

Novel mutations in the thymidine kinase 2 gene ( TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion

Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I

A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis

Early onset myopathy with a novel mutation in the Selenoprotein N gene ( SEPN1)

Two new mutations in the MTATP6 gene associated with Leigh syndrome

Progressive encephalopathy and complex I deficiency associated with mutations in MTND1

Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene

Whole body vibration therapy in patients with Duchenne muscular dystrophy--a prospective observational study

EEG findings in children and adolescents with mitochondrial encephalomyopathies: A study of 25 cases

Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally

Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres

Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

Early-onset myopathy with tubular aggregates

Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres

Mitochondrial myopathy and cardiomyopathy in siblings

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