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Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

Neurology, 2002-08, Vol.59 (4), p.620-623

2002

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The clinical spectrum of limb girdle muscular dystrophy A survey in the Netherlands

Brain (London, England : 1878), 1996-10, Vol.119 (5), p.1471-1480

1996

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Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

Journal of neurology, 2000-07, Vol.247 (7), p.524-529

2000

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A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement

Annals of neurology, 1996-05, Vol.39 (5), p.636-642

1996

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The heart in limb girdle muscular dystrophy

Heart (British Cardiac Society), 1998-01, Vol.79 (1), p.73-77

1998

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ANTICIPATION IN MYOTONIC DYSTROPHY: FACT OR FICTION?

Brain (London, England : 1878), 1989-06, Vol.112 (3), p.779-797

1989

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CONGENITAL DEMYELINATING MOTOR AND SENSORY NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS

Brain (London, England : 1878), 1990-12, Vol.113 (6), p.1629-1643

1990

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Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

Nature genetics, 1996-10, Vol.14 (2), p.191-194

1996

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Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies

European journal of pediatrics, 1993-03, Vol.152 (3), p.178-184

1993

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Chronic inflammatory demyelinating polyneuropathy: conduction failure before and during immunoglobulin or plasma therapy

Brain (London, England : 1878), 1989-12, Vol.112 (6), p.1563-1571

1989

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Birth and population prevalence of Duchenne muscular dystrophy in the Netherlands

Human genetics, 1992, Vol.88 (3), p.258-266

1992

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Intravenous immunoglobulin treatment in patients with chronic inflammatory demyelinating polyneuropathy: a double blind, placebo controlled study

Journal of neurology, neurosurgery and psychiatry, 1993-01, Vol.56 (1), p.36-39

1993

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Vitamin‐responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis

Journal of inherited metabolic disease, 1994-03, Vol.17 (2), p.196-204

1994

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Miyoshi-type distal muscular dystrophy : Clinical spectrum in 24 Dutch patients

Brain (London, England : 1878), 1997-11, Vol.120 (11), p.1989-1996

1997

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Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells

Journal of neurology, 1988-09, Vol.235 (7), p.392-396

1988

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Daytime sleep in myotonic dystrophy is not caused by sleep apnoea

Journal of neurology, neurosurgery and psychiatry, 1994-05, Vol.57 (5), p.626-628

1994

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Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene

Neuromuscular disorders : NMD, 2004-10, Vol.14 (10), p.683-688

2004

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Pleocore disease: multi-minicore disease and focal loss of cross striations

Acta neuropathologica, 1986-01, Vol.72 (2), p.142-149

1986

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Limb girdle muscular dystrophy: A pathological and immunohistochemical reevaluation

Muscle & nerve, 1998-05, Vol.21 (5), p.584-590

1998

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Difficulties in assessing biochemical properties of abnormal muscle mitochondria

Journal of inherited metabolic disease, 1985-06, Vol.8 (S2), p.149-150

1985

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Plasma and gamma-globulin infusion in chronic inflammatory polyneuropathy

Journal of the neurological sciences, 1985-01, Vol.70 (3), p.317-326

1985

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Prenatal diagnosis of myotonic dystrophy by direct mutation analysis

The Lancet (British edition), 1992-07, Vol.340 (8813), p.237-238

1992

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Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects

Journal of the neurological sciences, 1995-05, Vol.129 (MAI), p.56-57

1995

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A mitochondrial tRNA Val gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

Neurology, 1998-01, Vol.50 (1), p.293-295

1998

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Vitamin‐responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis

Journal of inherited metabolic disease, 1992-05, Vol.15 (3), p.331-334

1992

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Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

The clinical spectrum of limb girdle muscular dystrophy A survey in the Netherlands

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement

The heart in limb girdle muscular dystrophy

ANTICIPATION IN MYOTONIC DYSTROPHY: FACT OR FICTION?

CONGENITAL DEMYELINATING MOTOR AND SENSORY NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies

Chronic inflammatory demyelinating polyneuropathy: conduction failure before and during immunoglobulin or plasma therapy

Birth and population prevalence of Duchenne muscular dystrophy in the Netherlands

Intravenous immunoglobulin treatment in patients with chronic inflammatory demyelinating polyneuropathy: a double blind, placebo controlled study

Vitamin‐responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis

Miyoshi-type distal muscular dystrophy : Clinical spectrum in 24 Dutch patients

Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells

Daytime sleep in myotonic dystrophy is not caused by sleep apnoea

Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene

Pleocore disease: multi-minicore disease and focal loss of cross striations

Limb girdle muscular dystrophy: A pathological and immunohistochemical reevaluation

Difficulties in assessing biochemical properties of abnormal muscle mitochondria

Plasma and gamma-globulin infusion in chronic inflammatory polyneuropathy

Prenatal diagnosis of myotonic dystrophy by direct mutation analysis

Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects

A mitochondrial tRNA Val gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

Vitamin‐responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis

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