Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Complex I respiratory defect in LHON plus dystonia with no mitochondrial DNA mutation.

Literature DB >> 16170145

Complex I respiratory defect in LHON plus dystonia with no mitochondrial DNA mutation.

K K Abu-Amero, T M Bosley, S Bohlega, D McLean.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2005 PMID： 16170145 PMCID： PMC1772879 DOI： 10.1136/bjo.2005.072819

Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638

× No keyword cloud information.

7 in total

1. Mitochondrial genome variation in eastern Asia and the peopling of Japan.

Authors: Masashi Tanaka; Vicente M Cabrera; Ana M González; José M Larruga; Takeshi Takeyasu; Noriyuki Fuku; Li-Jun Guo; Raita Hirose; Yasunori Fujita; Miyuki Kurata; Ken-ichi Shinoda; Kazuo Umetsu; Yoshiji Yamada; Yoshiharu Oshida; Yuzo Sato; Nobutaka Hattori; Yoshikuni Mizuno; Yasumichi Arai; Nobuyoshi Hirose; Shigeo Ohta; Osamu Ogawa; Yasushi Tanaka; Ryuzo Kawamori; Masayo Shamoto-Nagai; Wakako Maruyama; Hiroshi Shimokata; Ryota Suzuki; Hidetoshi Shimodaira
Journal: Genome Res Date: 2004-10 Impact factor: 9.043

2. Mitochondrial T9957C mutation in association with NAION and seizures but not MELAS.

Authors: Khaled K Abu-Amero; Thomas M Bosley; Saeed Bohlega; Erik Hansen
Journal: Ophthalmic Genet Date: 2005-03 Impact factor: 1.803

3. Flow cytometry in the study of mitochondrial respiratory chain disorders.

Authors: Karen Setterfield; Andrew J Williams; Jennifer Donald; David R Thorburn; Denise M Kirby; Ian Trounce; John Christodoulou
Journal: Mitochondrion Date: 2002-05 Impact factor: 4.160

4. Complex I function in familial and sporadic dystonia.

Authors: A H Schapira; T Warner; M T Gash; M W Cleeter; C F Marinho; J M Cooper
Journal: Ann Neurol Date: 1997-04 Impact factor: 10.422

5. Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation.

Authors: Mark A Tarnopolsky; Steven K Baker; Tomoko Myint; C E Maxner; J Robitaille; Brian H Robinson
Journal: Am J Med Genet A Date: 2004-02-01 Impact factor: 2.802

6. Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy.

Authors: E K Nikoskelainen; R J Marttila; K Huoponen; V Juvonen; T Lamminen; P Sonninen; M L Savontaus
Journal: J Neurol Neurosurg Psychiatry Date: 1995-08 Impact factor: 10.154

Review 7. Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene.

Authors: Johannes Binder; Sabine Hofmann; Stefan Kreisel; Johannes C Wöhrle; Hansjörg Bäzner; Joachim K Krauss; Michael G Hennerici; Matthias F Bauer
Journal: Brain Date: 2003-06-04 Impact factor: 13.501

7 in total

6 in total

Complex I respiratory defect in LHON plus dystonia with no mitochondrial DNA mutation.

1. Mitochondrial genome variation in eastern Asia and the peopling of Japan.

2. Mitochondrial T9957C mutation in association with NAION and seizures but not MELAS.

3. Flow cytometry in the study of mitochondrial respiratory chain disorders.

4. Complex I function in familial and sporadic dystonia.

5. Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation.

6. Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy.

Review 7. Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene.

1. Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.

2. Leber's Hereditary Optic Neuropathy: The Mitochondrial Connection Revisited.

3. An overview of the Prince Salman Center for Disability Research scientific outcomes.

4. Visual and neurologic sequelae of methanol poisoning in Saudi Arabia.

Review 5. The Progress of Gene Therapy for Leber's Optic Hereditary Neuropathy.

6. An evaluation of genetic causes and environmental risks for bilateral optic atrophy.