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Literature DB >> 21646330

Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation.

Elena Pretegiani, Alessandra Rufa, Gian Nicola Gallus, Elena Cardaioli, Alessandro Malandrini, Antonio Federico.

Abstract

Entities: Chemical

Mesh：

Substances：
GTP Phosphohydrolases

Year: 2011 PMID： 21646330 DOI： 10.1093/brain/awr101

Source DB: PubMed Journal: Brain ISSN： 0006-8950 Impact factor: 13.501

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Cited

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7 in total

Review 1. Dominant optic atrophy.

Authors: Guy Lenaers; Christian Hamel; Cécile Delettre; Patrizia Amati-Bonneau; Vincent Procaccio; Dominique Bonneau; Pascal Reynier; Dan Milea
Journal: Orphanet J Rare Dis Date: 2012-07-09 Impact factor: 4.123

Review 2. Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis.

Authors: James D Weisfeld-Adams; Ilana B Katz Sand; Justin M Honce; Fred D Lublin
Journal: Brain Date: 2015-01-29 Impact factor: 13.501

3. 'Behr syndrome' with OPA1 compound heterozygote mutations.

Authors: Valerio Carelli; Mario Sabatelli; Rosalba Carrozzo; Teresa Rizza; Simone Schimpf; Bernd Wissinger; Claudia Zanna; Michela Rugolo; Chiara La Morgia; Leonardo Caporali; Michele Carbonelli; Piero Barboni; Caterina Tonon; Raffaele Lodi; Enrico Bertini
Journal: Brain Date: 2014-08-21 Impact factor: 13.501

7. Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome.

Authors: Alberto Galvez-Ruiz
Journal: Saudi J Ophthalmol Date: 2015-04-16

7 in total

Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation.

Review 1. Dominant optic atrophy.

Review 2. Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis.

3. 'Behr syndrome' with OPA1 compound heterozygote mutations.

Review 4. Disturbed mitochondrial dynamics and neurodegenerative disorders.

Review 5. The optic nerve: a "mito-window" on mitochondrial neurodegeneration.

6. Reply: Spastic paraplegia in ‘dominant optic atrophy plus’ phenotype due to OPA1 mutation.

7. Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome.