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Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C

Neurology, 2003-01, Vol.60 (1), p.22-26

2003

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CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

Neurology, 2010-11, Vol.75 (22), p.1968-1975

2010

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The clinical and genetic spectrum of spinocerebellar ataxia 14

Neurology, 2005-04, Vol.64 (7), p.1258-1260

2005

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Late-onset hereditary axonal neuropathies

Neurology, 2008-07, Vol.71 (1), p.14-20

2008

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P036Exploring us obstetrician-gynecologists’ characterization of periviable pregnancy-ending interventions: A mixed methods study

Contraception (Stoneham), 2022-12, Vol.116, p.82-82

2022

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Creative prosthetic foot selection enables successful ambulation in stiletto high heels

Prosthetics and orthotics international, 2018-06, Vol.42 (3), p.344-349

2018

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Late-onset SCA2: 33 CAG repeats are sufficient to cause disease

Neurology, 2000-08, Vol.55 (4), p.569-572

2000

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Charcot–Marie–Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes

Neuromuscular disorders : NMD, 2002-10, Vol.12 (7), p.643-650

2002

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Familial Aggregation of Psychotic Symptoms in Huntington's Disease

The American journal of psychiatry, 2000-12, Vol.157 (12), p.1955-1959

2000

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Hereditary benign chorea: clinical and genetic features of a distinct disease

Neurology, 2001-07, Vol.57 (1), p.106-110

2001

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Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: A 20-year study

Annals of neurology, 1997-04, Vol.41 (4), p.463-469

1997

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Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia

American journal of human genetics, 2003-04, Vol.72 (4), p.839-849

2003

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Late-Onset Huntington’s Disease: A Review of 41 Cases

Neurotherapeutics, 2008-04, Vol.5 (2), p.370-370

2008

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Severe vincristine neuropathy in charcot‐marie‐tooth disease type 1A

Cancer, 1996-04, Vol.77 (7), p.1356-1362

1996

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Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders

Neurology, 1994-12, Vol.44 (12), p.2253-2253

1994

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Familial spastic paraparesis: Evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2

American journal of medical genetics, 1997-02, Vol.74 (1), p.26-36

1997

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Impotence associated with the Charcot-Marie-Tooth syndrome

European neurology, 1994, Vol.34 (3), p.155-157

1994

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Sexual function in married men with Parkinson's disease compared to married men with arthritis

Neurology, 1990-09, Vol.40 (9), p.1347-1347

1990

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Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32

American journal of medical genetics, 2002-05, Vol.114 (4), p.450-457

2002

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Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder

Annals of neurology, 2001-04, Vol.49 (4), p.486-492

2001

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Late-onset SCA2: 33 CAG repeats are sufficient to cause disease

Neurology, 2000-08, Vol.55 (4), p.569

2000

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Tracheal TDx Fetal Lung Maturity Test for Assessing Lung Maturity in Newborns With Respiratory Distress

American journal of perinatology, 1995-11, Vol.12 (6), p.420-424

1995

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Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity

Journal of the neurological sciences, 2002-04, Vol.196 (1), p.91-96

2002

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Prevention of nervous system trauma from travel in motor vehicles

Journal of neurosurgical nursing, 1985-04, Vol.17 (2), p.77-82

Lipe, H P

1985

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Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34

Human genetics, 1998-01, Vol.102 (1), p.93-97

1998

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Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

The clinical and genetic spectrum of spinocerebellar ataxia 14

Late-onset hereditary axonal neuropathies

P036Exploring us obstetrician-gynecologists’ characterization of periviable pregnancy-ending interventions: A mixed methods study

Creative prosthetic foot selection enables successful ambulation in stiletto high heels

Late-onset SCA2: 33 CAG repeats are sufficient to cause disease

Charcot–Marie–Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes

Familial Aggregation of Psychotic Symptoms in Huntington's Disease

Hereditary benign chorea: clinical and genetic features of a distinct disease

Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: A 20-year study

Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia

Late-Onset Huntington’s Disease: A Review of 41 Cases

Severe vincristine neuropathy in charcot‐marie‐tooth disease type 1A

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders

Familial spastic paraparesis: Evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2

Impotence associated with the Charcot-Marie-Tooth syndrome

Sexual function in married men with Parkinson's disease compared to married men with arthritis

Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32

Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder

Late-onset SCA2: 33 CAG repeats are sufficient to cause disease

Tracheal TDx Fetal Lung Maturity Test for Assessing Lung Maturity in Newborns With Respiratory Distress

Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity

Prevention of nervous system trauma from travel in motor vehicles

Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34

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