Literature DB >> 14175627

A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER, ASSOCIATED WITH LEBER'S OPTIC ATROPHY. I. CLINICAL STUDIES.

G W BRUYN, L N WENT.   

Abstract

Entities:  

Keywords:  ABNORMALITIES; HYDROCEPHALUS; MENTAL RETARDATION; MONGOLISM; NEUROFIBROMATOSIS; NEUROLOGIC MANIFESTATIONS; OPTIC ATROPHY; PARALYSIS, SPASTIC; SPEECH DISORDERS; SPINA BIFIDA

Mesh：

Year:  1964        PMID： 14175627     DOI： 10.1016/0022-510x(64)90054-1

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  16 in total

Review 1.  Hereditary spastic paraparesis: a review of new developments.

Authors:  C McDermott; K White; K Bushby; P Shaw
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-08       Impact factor: 10.154

2.  Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.

Authors:  V Leuzzi; E Bertini; A M De Negri; M Gallucci; B Garavaglia
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-01       Impact factor: 10.154

3.  Studies on Leber's optic neuropathy III.

Authors:  A Palan; A Stehouwer; L N Went
Journal:  Doc Ophthalmol       Date:  1989-01       Impact factor: 2.379

4.  Genetical aspects of severe visual impairment in childhood.

Authors:  G R Fraser
Journal:  J Med Genet       Date:  1970-09       Impact factor: 6.318

5.  The heart in Leber's optic atrophy.

Authors:  F C Rose; A N Bowden; P M Bowden
Journal:  Br J Ophthalmol       Date:  1970-06       Impact factor: 4.638

6.  HEREDITARY MYELOPATHIES.

Authors:  John K Fink
Journal:  Continuum (N Y)       Date:  2008-06-01

7.  X-chromosomal-linked diseases affecting the eye: status of the heterozygote female.

Authors:  A E Krill
Journal:  Trans Am Ophthalmol Soc       Date:  1969

8.  Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

Authors:  N Howell; I Kubacka; M Xu; D A McCullough
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025

9.  Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

Authors:  A S Teebi; S Miller; H Ostrer; P Eydoux; C Colomb-Brockmann; K Oudjhane; G Watters
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

10.  Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

Authors:  D D De Vries; L N Went; G W Bruyn; H R Scholte; R M Hofstra; P A Bolhuis; B A van Oost
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025
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