Literature DB >> 11723211

Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases.

V Carelli1, M L Valentino, R Liguori, S Meletti, R Vetrugno, F Provini, G L Mancardi, F Bandini, A Baruzzi, P Montagna.   

Abstract

The previously unrecognised association of myoclonus in two patients with LHON with the 11778/ND4 pathogenic mutation is described. EEG failed to disclose epileptic figures, and a back averaging study suggested that myoclonus was cortical in origin in both patients.

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Year:  2001        PMID： 11723211      PMCID： PMC1737658          DOI： 10.1136/jnnp.71.6.813

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  12 in total

1.  De novo COX2 mutation in a LHON family of Caucasian origin: implication for the role of mtDNA polymorphism in human pathology.

Authors:  Sergey I Zhadanov; Vasiliy V Atamanov; Nikolay I Zhadanov; Theodore G Schurr
Journal:  J Hum Genet       Date:  2006-01-18       Impact factor: 3.172

Review 2.  The importance of mitochondria in age-related and inherited eye disorders.

Authors:  Stuart G Jarrett; Alfred S Lewin; Michael E Boulton
Journal:  Ophthalmic Res       Date:  2010-09-09       Impact factor: 2.892

3.  Idebenone: A Review in Leber's Hereditary Optic Neuropathy.

Authors:  Katherine A Lyseng-Williamson
Journal:  Drugs       Date:  2016-05       Impact factor: 9.546

4.  Brain white matter changes in asymptomatic carriers of Leber's hereditary optic neuropathy.

Authors:  Miaomiao Long; Ling Wang; Qin Tian; Hao Ding; Wen Qin; Dapeng Shi; Chunshui Yu
Journal:  J Neurol       Date:  2019-03-25       Impact factor: 4.849

5.  Idebenone protects against retinal damage and loss of vision in a mouse model of Leber's hereditary optic neuropathy.

Authors:  Fabrice D Heitz; Michael Erb; Corinne Anklin; Dimitri Robay; Vincent Pernet; Nuri Gueven
Journal:  PLoS One       Date:  2012-09-18       Impact factor: 3.240

6.  A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy.

Authors:  Thomas Klopstock; Patrick Yu-Wai-Man; Konstantinos Dimitriadis; Jacinthe Rouleau; Suzette Heck; Maura Bailie; Alaa Atawan; Sandip Chattopadhyay; Marion Schubert; Aylin Garip; Marcus Kernt; Diana Petraki; Christian Rummey; Mika Leinonen; Günther Metz; Philip G Griffiths; Thomas Meier; Patrick F Chinnery
Journal:  Brain       Date:  2011-07-25       Impact factor: 13.501

Review 7.  A neurodegenerative perspective on mitochondrial optic neuropathies.

Authors:  Patrick Yu-Wai-Man; Marcela Votruba; Florence Burté; Chiara La Morgia; Piero Barboni; Valerio Carelli
Journal:  Acta Neuropathol       Date:  2016-09-30       Impact factor: 17.088

8.  Persistence of the treatment effect of idebenone in Leber's hereditary optic neuropathy.

Authors:  T Klopstock; G Metz; P Yu-Wai-Man; B Büchner; C Gallenmüller; M Bailie; N Nwali; P G Griffiths; B von Livonius; L Reznicek; J Rouleau; N Coppard; T Meier; P F Chinnery
Journal:  Brain       Date:  2013-02-06       Impact factor: 13.501

9.  Effects of idebenone on color vision in patients with leber hereditary optic neuropathy.

Authors:  Guenther Rudolph; Konstantinos Dimitriadis; Boriana Büchner; Suzette Heck; Jasmina Al-Tamami; Florian Seidensticker; Christian Rummey; Mika Leinonen; Thomas Meier; Thomas Klopstock
Journal:  J Neuroophthalmol       Date:  2013-03       Impact factor: 3.042

Review 10.  Inherited mitochondrial optic neuropathies.

Authors:  P Yu-Wai-Man; P G Griffiths; G Hudson; P F Chinnery
Journal:  J Med Genet       Date:  2008-11-10       Impact factor: 6.318
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