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Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series

Brain (London, England : 1878), 2008-10, Vol.131 (10), p.2632-2646

2008

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Alterations in the metabolic and cardiorespiratory response to exercise in Huntington's Disease

Parkinsonism & related disorders, 2018-09, Vol.54, p.56-61

2018

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Exercise testing and training in people with Huntington’s disease

Clinical rehabilitation, 2015-02, Vol.29 (2), p.196-206

2015

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A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Nature genetics, 2001-06, Vol.28 (2), p.119-120

2001

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Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21

American journal of human genetics, 1997-10, Vol.61 (4), p.899-908

1997

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A prevalence study of primary dystonia in eight European countries

Journal of neurology, 2000-10, Vol.247 (10), p.787-792

Epidemiological Study of Dystonia in Europe (ESDE) Collaborative Group

2000

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Refined Linkage Disequilibrium and Physical Mapping of the Gene Locus for X-Linked Dystonia–Parkinsonism (DYT3)

Genomics (San Diego, Calif.), 1999-09, Vol.60 (3), p.320-329

1999

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Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome

Journal of medical genetics, 1993-12, Vol.30 (12), p.1044-1050

1993

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Do the same genes predispose to Gilles de la Tourette syndrome and dystonia? Report of a new family and review of the literature

Movement disorders, 1999-09, Vol.14 (5), p.826-831

1999

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain (London, England : 1878), 2021-03, Vol.144 (2), p.584-600

2021

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A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds

Human molecular genetics, 2013-12, Vol.22 (25), p.5173-5187

2013

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A novel gene, DXS8237E, lies within 20 kb upstream of UBE1 in Xp11.23 and has a different X inactivation status

Genomics (San Diego, Calif.), 1996, Vol.31 (1), p.135-138

1996

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Klinefelter-like phenotype and primary infertility in a male with a paracentric Xq inversion

Journal of medical genetics, 2002-06, Vol.39 (6), p.e28-28

2002

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The genetics of primary dystonias and related disorders

Brain (London, England : 1878), 2002-04, Vol.125 (Pt 4), p.695-721

NEMETH, Andrea H

2002

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A bidirectional YAC walk from the Norrie disease (NDP) locus

Genomics (San Diego, Calif.), 1995-02, Vol.25 (3), p.644-649

1995

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Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34

American journal of human genetics, 2000-11, Vol.67 (5), p.1320-1326

2000

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Delivering it: Stargardt disease

Acta ophthalmologica (Oxford, England), 2012-09, Vol.90 (s249), p.0-0

2012

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Using it: NGS in the inherited retinal degeneration clinic

Acta ophthalmologica (Oxford, England), 2012-09, Vol.90 (s249), p.0-0

2012

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A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration

Annals of neurology, 1999-05, Vol.45 (5), p.652-655

1999

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J05Task-specific Training In Huntington's Disease: A Randomised, Controlled Feasibility Trial

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A66-A67

2014

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Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin

Genetics in medicine, 2012-11, Vol.14 (11), p.891-899

2012

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N02Safety And Tolerability Of Selisistat For The Treatment Of Huntington's Disease: Results From A Randomised, Double-blind, Placebo-controlled Phase Ii Trial

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A102-A102

2014

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Clinical and molecular genetics of primary dystonias

Neurogenetics, 1998-03, Vol.1 (3), p.165-177

1998

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A 1.8-Mb YAC Contig in Xp11.23: Identification of CpG Islands and Physical Mapping of CA Repeats in a Region of High Gene Density

Genomics (San Diego, Calif.), 1994-05, Vol.21 (2), p.337-343

1994

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Sex-related influences on the frequency and age of onset of primary dystonia

Neurology, 1999-11, Vol.53 (8), p.1871-1871

Epidemiologic Study of Dystonia in Europe (ESDE) Collaborative Group

1999

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Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series

Alterations in the metabolic and cardiorespiratory response to exercise in Huntington's Disease

Exercise testing and training in people with Huntington’s disease

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21

A prevalence study of primary dystonia in eight European countries

Refined Linkage Disequilibrium and Physical Mapping of the Gene Locus for X-Linked Dystonia–Parkinsonism (DYT3)

Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome

Do the same genes predispose to Gilles de la Tourette syndrome and dystonia? Report of a new family and review of the literature

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds

A novel gene, DXS8237E, lies within 20 kb upstream of UBE1 in Xp11.23 and has a different X inactivation status

Klinefelter-like phenotype and primary infertility in a male with a paracentric Xq inversion

The genetics of primary dystonias and related disorders

A bidirectional YAC walk from the Norrie disease (NDP) locus

Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34

Delivering it: Stargardt disease

Using it: NGS in the inherited retinal degeneration clinic

A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration

J05Task-specific Training In Huntington's Disease: A Randomised, Controlled Feasibility Trial

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin

N02Safety And Tolerability Of Selisistat For The Treatment Of Huntington's Disease: Results From A Randomised, Double-blind, Placebo-controlled Phase Ii Trial

Clinical and molecular genetics of primary dystonias

A 1.8-Mb YAC Contig in Xp11.23: Identification of CpG Islands and Physical Mapping of CA Repeats in a Region of High Gene Density

Sex-related influences on the frequency and age of onset of primary dystonia

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