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Blood neurofilament light levels segregate treatment effects in multiple sclerosis

Neurology, 2020-03, Vol.94 (11), p.e1201

2020

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A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

Nature genetics, 1998-01, Vol.18 (1), p.53-55

1998

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A novel potassium channel gene, KCNQ2 , is mutated in an inherited epilepsy of newborns

Nature genetics, 1998-01, Vol.18 (1), p.25-29

1998

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Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4) : Clinical description and genetic localization to chromosome 16q22.1

American journal of human genetics, 1996-08, Vol.59 (2), p.392-399

1996

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Involvement of astrocyte metabolic coupling in Tourette syndrome pathogenesis

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1519-1522

2015

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A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

Annals of neurology, 1999-10, Vol.46 (4), p.671-678

1999

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Latent Class Analysis of Gilles de la Tourette Syndrome Using Comorbidities: Clinical and Genetic Implications

Biological psychiatry (1969), 2008-08, Vol.64 (3), p.219-225

2008

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Linkage analysis of Tourette syndrome in a large utah pedigree

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-03, Vol.153B (2), p.656-662

2010

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Matrix metalloproteinase upregulation in chronic inflammatory demyelinating polyneuropathy and nonsystemic vasculitic neuropathy

Neurology, 1999-07, Vol.53 (1), p.62-62

1999

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Family-based genetic association study of DLGAP3 in Tourette Syndrome

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2011-01, Vol.156B (1), p.108-114

2011

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Genotype–Phenotype correlations in multiple sclerosis: HLA genes influence disease severity inferred by 1HMR spectroscopy and MRI measures

Brain (London, England : 1878), 2009-01, Vol.132 (1), p.250-259

2009

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Andreas Rett and benign familial neonatal convulsions revisited

Neurology, 2006-09, Vol.67 (5), p.864-866

2006

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Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological, and genetic study

Annals of neurology, 2000-02, Vol.47 (2), p.152-161

2000

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Autosomal dominant familial spastic paraplegia : tight linkage to chromosome 15q

American journal of human genetics, 1995, Vol.56 (1), p.188-192

1995

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Matrix metalloproteinases-9 and -2 in secondary vasculitic neuropathies

Acta neuropathologica, 2003, Vol.105 (1), p.37-42

2003

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Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family

Neurology, 1995-02, Vol.45 (2), p.325-331

1995

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Diagnosis of neurofibromatosis I by using tightly linked, flanking DNA markers

American journal of human genetics, 1990-05, Vol.46 (5), p.943-949

1990

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Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type 1

American journal of human genetics, 1989, Vol.44 (1), p.51-57

1989

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Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromsome 3p

Nature genetics, 1995, Vol.10 (1), p.89-93

1995

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Microcephaly with simplified gyral pattern in six related children

American journal of medical genetics, 1999-05, Vol.84 (2), p.137-144

1999

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Blood neurofilament light levels segregate treatment effects in multiple sclerosis

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

A novel potassium channel gene, KCNQ2 , is mutated in an inherited epilepsy of newborns

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4) : Clinical description and genetic localization to chromosome 16q22.1

Involvement of astrocyte metabolic coupling in Tourette syndrome pathogenesis

A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

Latent Class Analysis of Gilles de la Tourette Syndrome Using Comorbidities: Clinical and Genetic Implications

Linkage analysis of Tourette syndrome in a large utah pedigree

Matrix metalloproteinase upregulation in chronic inflammatory demyelinating polyneuropathy and nonsystemic vasculitic neuropathy

Family-based genetic association study of DLGAP3 in Tourette Syndrome

Genotype–Phenotype correlations in multiple sclerosis: HLA genes influence disease severity inferred by 1HMR spectroscopy and MRI measures

Andreas Rett and benign familial neonatal convulsions revisited

Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological, and genetic study

Autosomal dominant familial spastic paraplegia : tight linkage to chromosome 15q

Matrix metalloproteinases-9 and -2 in secondary vasculitic neuropathies

Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family

Diagnosis of neurofibromatosis I by using tightly linked, flanking DNA markers

Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type 1

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromsome 3p

Microcephaly with simplified gyral pattern in six related children

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