(Q46206983)

20 December 2017

title

Hereditary motor and sensory neuropathy type VI with optic atrophy (English)

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20 December 2017

hereditary motor and sensory neuropathy

main subject

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20 December 2017

author name string

Irene Voo

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20 December 2017

Bryan E Allf

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20 December 2017

Nitin Udar

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20 December 2017

Rosamaria Silva-Garcia

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20 December 2017

Kent W Small

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20 December 2017

language of work or name

English

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publication date

1 October 2003

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20 December 2017

American Journal of Ophthalmology

published in

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20 December 2017

volume

136

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20 December 2017

issue

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20 December 2017

page(s)

670-677

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20 December 2017

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900390-8

Clinical features and molecular genetics of hereditary peripheral neuropathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900390-8

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900390-8

Primary structure of a dynamin-related mouse mitochondrial GTPase and its distribution in brain, subcellular localization, and effect on mitochondrial morphology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900390-8

Charcot-Marie-tooth disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900390-8

Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot–Marie–Tooth disease associated with light-near dissociation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900390-8

On familial ataxia, neural amyotrophy, and their association with progressive external ophthalmoplegia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900390-8

Hereditary motor and sensory neuropathy with congenital glaucoma. Report on a family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900390-8

Hereditary motor and sensory neuropathy with myelin folding and juvenile onset glaucoma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900390-8

Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900390-8

Charcot-Marie-Tooth disease with primary optic atrophy; report of a case

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900390-8

Genetic heterogeneity of hereditary motor and sensory neuropathy type VI

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900390-8

Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900390-8

Optic atrophy, neural deafness, and distal neurogenic amyotrophy; report of a family with two affected siblings

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900390-8

Familial opticoacoustic nerve degeneration and polyneuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2803%2900390-8

10.1016/S0002-9394(03)00390-8

7 January 2021

Identifiers

DOI

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20 December 2017

1 reference

20 December 2017