4.7 Article

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Clinical Neurology

A novel NGFB point mutation: a phenotype study of heterozygous patients

J. Minde et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2009)

Article Genetics & Heredity

Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis

Sara Sebnem Kilic et al.

NEUROGENETICS (2009)

Review Genetics & Heredity

Hereditary sensory and autonomic neuropathies: types II, III, and IV

Felicia B. Axelrod et al.

ORPHANET JOURNAL OF RARE DISEASES (2007)

Article Clinical Neurology

Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene

F. Meggouh et al.

NEUROLOGY (2006)

Article Biochemistry & Molecular Biology

Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1

A Bouhouche et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2006)

Review Neurosciences

Disease mechanisms in hereditary sensory and autonomic neuropathies

N Verpoorten et al.

NEUROBIOLOGY OF DISEASE (2006)

Review Neurosciences

Molecular genetics of hereditary sensory neuropathies

Michaela Auer-Grumbach et al.

NEUROMOLECULAR MEDICINE (2006)

Article Clinical Neurology

SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies

CJ Klein et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2005)

Article Biochemistry & Molecular Biology

novoSNP, a novel computational tool for sequence variation discovery

S Weckx et al.

GENOME RESEARCH (2005)

Article Biochemistry & Molecular Biology

A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception

E Einarsdottir et al.

HUMAN MOLECULAR GENETICS (2004)

Article Clinical Neurology

SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I

K Verhoeven et al.

NEUROLOGY (2004)

Article Clinical Neurology

A novel RAB7 mutation associated with ulcero-mutilating neuropathy

H Houlden et al.

ANNALS OF NEUROLOGY (2004)

Article Genetics & Heredity

A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24

C Kok et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

Article Genetics & Heredity

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

K Verhoeven et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

Review Clinical Neurology

Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations - A review

M Auer-Grumbach et al.

ARCHIVES OF NEUROLOGY (2003)

Article Genetics & Heredity

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

SA Slaugenhaupt et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2001)

Letter Genetics & Heredity

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

K Bejaoui et al.

NATURE GENETICS (2001)