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Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

Brain (London, England : 1878), 2005-08, Vol.128 (8), p.1847-1854

2005

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WRN or telomerase constructs reverse 4-nitroquinoline 1-oxide sensitivity in transformed Werner syndrome fibroblasts

Cancer research (Chicago, Ill.), 2000-05, Vol.60 (9), p.2372-2376

2000

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Going deep to cut the link: cortical disconnection syndrome caused by a thalamic lesion

Neurology, 2003-06, Vol.60 (11), p.1865

2003

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A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features

Molecular syndromology, 2010-09, Vol.1 (3), p.127-132

2010

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A YAC, P1, and Cosmid Contig and 17 New Polymorphic Markers for the Werner Syndrome Region at 8p12–p21

Genomics (San Diego, Calif.), 1996-08, Vol.35 (3), p.431-440

1996

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Comparison of Methods for Identifying Transcription Units and Transcription Map of the Werner Syndrome Gene Region

Genomics (San Diego, Calif.), 1998-09, Vol.52 (3), p.352-357

1998

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GABA and the ornithineδ-aminotransferase gene in vigabatrin-associated visual field defects

Seizure (London, England), 2001-10, Vol.10 (7), p.505-507

2001

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Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features

Neurology, 2003-05, Vol.60 (10), p.1687

2003

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Progressive external ophthalmoplegia: A new family with tremor and peripheral neuropathy

American journal of medical genetics. Part A, 2005-06, Vol.135A (2), p.217-219

2005

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FXTAS, SCA10, and SCA17 in American patients with movement disorders

American journal of medical genetics. Part A, 2005-07, Vol.136A (1), p.87-89

2005

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Gain-of-function mutation in Na sub(v)1.7 in familial erythromelalgia induces bursting of sensory neurons

Brain (London, England : 1878), 2005-08, Vol.128 (8), p.1847-1854

2005

Volltextzugriff (PDF)

Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: A new, lethal syndrome

American journal of medical genetics, 1998-12, Vol.80 (4), p.335-342

1998

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Human GABA(B) receptor 1 gene: eight novel sequence variants

Human mutation, 2001-04, Vol.17 (4), p.349-350

2001

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Rapid array-based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23)

American journal of medical genetics. Part A, 2005-04, Vol.134A (3), p.282-289

2005

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Clinical and molecular studies in a family with probable X-linked dominant Charcot-Marie-Tooth disease involving the central nervous system

Archives of neurology (Chicago), 2001-11, Vol.58 (11), p.1891

2001

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Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family

Archives of neurology (Chicago), 2005-01, Vol.62 (1), p.135

Hisama, Fuki M

2005

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46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters

American journal of medical genetics, 2001-01, Vol.98 (2), p.121-124

2001

Volltextzugriff (PDF)

The Biological Basis of Aging: Implications for Medical Genetics

Reference Module in Biomedical Research, 2014

2014

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Progress in Molecular Genetics of Alzheimer's Disease

The Neuroscientist (Baltimore, Md.), 1996-01, Vol.2 (1), p.3-6

1996

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Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

Genome medicine, 2019-12, Vol.11 (1), p.85-85, Article 85

2019

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Improving performance of multigene panels for genomic analysis of cancer predisposition

Genetics in medicine, 2016-10, Vol.18 (10), p.974-981

2016

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Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-06, Vol.153B (4), p.937-947

2010

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LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology

Molecular and cellular neuroscience, 2009-11, Vol.42 (4), p.448-457

2009

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Giant Pediatric Rhabdoid Meningioma Associated with a Germline BAP1 Pathogenic Variation: A Rare Clinical Case

World neurosurgery, 2018-11, Vol.119, p.402-415

2018

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Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

WRN or telomerase constructs reverse 4-nitroquinoline 1-oxide sensitivity in transformed Werner syndrome fibroblasts

Going deep to cut the link: cortical disconnection syndrome caused by a thalamic lesion

A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features

A YAC, P1, and Cosmid Contig and 17 New Polymorphic Markers for the Werner Syndrome Region at 8p12–p21

Comparison of Methods for Identifying Transcription Units and Transcription Map of the Werner Syndrome Gene Region

GABA and the ornithineδ-aminotransferase gene in vigabatrin-associated visual field defects

Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features

Progressive external ophthalmoplegia: A new family with tremor and peripheral neuropathy

FXTAS, SCA10, and SCA17 in American patients with movement disorders

Gain-of-function mutation in Na sub(v)1.7 in familial erythromelalgia induces bursting of sensory neurons

Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: A new, lethal syndrome

Human GABA(B) receptor 1 gene: eight novel sequence variants

Rapid array-based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23)

Clinical and molecular studies in a family with probable X-linked dominant Charcot-Marie-Tooth disease involving the central nervous system

Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family

46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters

The Biological Basis of Aging: Implications for Medical Genetics

Progress in Molecular Genetics of Alzheimer's Disease

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

Improving performance of multigene panels for genomic analysis of cancer predisposition

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology

Giant Pediatric Rhabdoid Meningioma Associated with a Germline BAP1 Pathogenic Variation: A Rare Clinical Case

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