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Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis

Neurology, 2002-03, Vol.58 (5), p.702

2002

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Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study

The Lancet (British edition), 1999-06, Vol.353 (9170), p.2116-2119

1999

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Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites

Neuropathology and applied neurobiology, 2009-10, Vol.35 (5), p.515-527

2009

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Gly118asp is a SCA14 founder mutation in the Dutch ataxia population

Human genetics, 2005-06, Vol.117 (1), p.88-91

2005

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Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

Clinical genetics, 2014-01, Vol.85 (1), p.78-86

2014

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Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

Neurology, 2011-07, Vol.77 (1), p.62

2011

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Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

Neuromuscular disorders : NMD, 1999-07, Vol.9 (5), p.347-351

1999

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Spinocerebellar Ataxia Type 7 (SCA7): First Report of a Systematic Neuropathological Study of the Brain of a Patient with a Very Short Expanded CAG-Repeat

Brain pathology (Zurich, Switzerland), 2005-10, Vol.15 (4), p.287-295

2005

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Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia

Journal of neurology, 2001-02, Vol.248 (2), p.113-120

2001

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Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH

Clinical genetics, 2002-12, Vol.62 (6), p.482-487

2002

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Similarities and differences in the phenotype, genotype and pathogenesis of different spinocerebellar ataxias

European journal of neurology, 2000-06, Vol.7 (3), p.309-314

2000

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Differences between hereditary motor and sensory neuropathy type 2 and chronic idiopathic axonal neuropathy : A clinical and electrophysiological study

Brain (London, England : 1878), 1997-06, Vol.120 (6), p.955-962

1997

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Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases

Journal of medical genetics, 1996-01, Vol.33 (1), p.29-35

1996

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Atelencephalic microcephaly : a case report and review of the literature

European journal of pediatrics, 1998-06, Vol.157 (6), p.493-497

1998

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A new variant of sensory ataxic neuropathy with autosomal dominant inheritance

Brain (London, England : 1878), 1995-12, Vol.118 (6), p.1557-1563

1995

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Complete FXN deletion in a patient with Friedreich's ataxia

Genetic testing and molecular biomarkers, 2012-09, Vol.16 (9), p.1015

2012

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Subcortical laminar heterotopia in two sisters and their mother: MRI, clinical findings and pathogenesis

Neuropediatrics, 1999-06, Vol.30 (3), p.155

1999

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A Dutch family with benign hereditary chorea of early onset: differentiation from Huntington's disease

Clinical neurology and neurosurgery, 1996-05, Vol.98 (2), p.165-170

1996

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Autosomal dominant congenital Horner's syndrome in a Dutch family

Journal of neurology, neurosurgery and psychiatry, 1992-01, Vol.55 (1), p.28-30

1992

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Interstitial deletion 11q. Case report and review of the literature

Genetic counseling, 1997, Vol.8 (4), p.335

1997

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Familial, alternating Bell's palsy with dominant inheritance

European neurology, 1990, Vol.30 (6), p.310

1990

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Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

Molecular genetics and metabolism, 2012-04, Vol.105 (4), p.596-601

2012

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Sutural cataract, retinitis pigmentosa, microcephaly and psychomotor retardation a new autosomal recessive disorder?

Ophthalmic genetics, 1994, Vol.15 (3-4), p.121-127

1994

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Are Lisch nodules an ocular marker of the neurofibromatosis gene in otherwise unaffected family members?

Dermatologica, 1987, Vol.174 (5), p.232

1987

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WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis

Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study

Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites

Gly118asp is a SCA14 founder mutation in the Dutch ataxia population

Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

Spinocerebellar Ataxia Type 7 (SCA7): First Report of a Systematic Neuropathological Study of the Brain of a Patient with a Very Short Expanded CAG-Repeat

Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia

Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH

Similarities and differences in the phenotype, genotype and pathogenesis of different spinocerebellar ataxias

Differences between hereditary motor and sensory neuropathy type 2 and chronic idiopathic axonal neuropathy : A clinical and electrophysiological study

Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases

Atelencephalic microcephaly : a case report and review of the literature

A new variant of sensory ataxic neuropathy with autosomal dominant inheritance

Complete FXN deletion in a patient with Friedreich's ataxia

Subcortical laminar heterotopia in two sisters and their mother: MRI, clinical findings and pathogenesis

A Dutch family with benign hereditary chorea of early onset: differentiation from Huntington's disease

Autosomal dominant congenital Horner's syndrome in a Dutch family

Interstitial deletion 11q. Case report and review of the literature

Familial, alternating Bell's palsy with dominant inheritance

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

Sutural cataract, retinitis pigmentosa, microcephaly and psychomotor retardation a new autosomal recessive disorder?

Are Lisch nodules an ocular marker of the neurofibromatosis gene in otherwise unaffected family members?

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