Literature DB >> 18204809

A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.

Maria Liguori, Antonella La Russa, Ida Manna, Virginia Andreoli, Manuela Caracciolo, Patrizia Spadafora, Rita Cittadella, Aldo Quattrone.   

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Year:  2008        PMID: 18204809     DOI: 10.1007/s00415-008-0571-x

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


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  10 in total

1.  OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

Authors:  U E Pesch; B Leo-Kottler; S Mayer; B Jurklies; U Kellner; E Apfelstedt-Sylla; E Zrenner; C Alexander; B Wissinger
Journal:  Hum Mol Genet       Date:  2001-06-15       Impact factor: 6.150

2.  OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

Authors:  Patrizia Amati-Bonneau; Agnès Guichet; Aurélien Olichon; Arnaud Chevrollier; Frédérique Viala; Stéphanie Miot; Carmen Ayuso; Sylvie Odent; Catherine Arrouet; Christophe Verny; Marie-Noelle Calmels; Gilles Simard; Pascale Belenguer; Jing Wang; Jean-Luc Puel; Christian Hamel; Yves Malthièry; Dominique Bonneau; Guy Lenaers; Pascal Reynier
Journal:  Ann Neurol       Date:  2005-12       Impact factor: 10.422

3.  A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy.

Authors:  Elena Cardaioli; Gian Nicola Gallus; Paola Da Pozzo; Alessandra Rufa; Rossella Franceschini; Eduardo Motolese; Aldo Caporossi; Maria T Dotti; Antonio Federico
Journal:  J Neurol       Date:  2005-12-12       Impact factor: 4.849

4.  eOPA1: an online database for OPA1 mutations.

Authors:  Marc Ferré; Patrizia Amati-Bonneau; Yves Tourmen; Yves Malthièry; Pascal Reynier
Journal:  Hum Mutat       Date:  2005-05       Impact factor: 4.878

5.  Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy.

Authors:  Sharareh Dadgar; Olivier Hagens; Seyed Razi Dadgar; Ehsan Nobakht Haghighi; Simone Schimpf; Bernd Wissinger; Masoud Garshasbi
Journal:  Exp Eye Res       Date:  2006-05-12       Impact factor: 3.467

6.  Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

Authors:  Marielle Payne; Zhenglin Yang; Bradley J Katz; Judith E A Warner; Christopher J Weight; Yu Zhao; Erik D Pearson; Robert L Treft; Todd Hillman; Richard J Kennedy; Francoise M Meire; Kang Zhang
Journal:  Am J Ophthalmol       Date:  2004-11       Impact factor: 5.258

7.  Dominant optic atrophy: correlation between clinical and molecular genetic studies.

Authors:  Anu Puomila; Kirsi Huoponen; Maija Mäntyjärvi; Petra Hämäläinen; Reetta Paananen; Eeva-Marja Sankila; Marja-Liisa Savontaus; Mirja Somer; Eeva Nikoskelainen
Journal:  Acta Ophthalmol Scand       Date:  2005-06

8.  Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

Authors:  C Toomes; N J Marchbank; D A Mackey; J E Craig; R A Newbury-Ecob; C P Bennett; C J Vize; S P Desai; G C Black; N Patel; M Teimory; A F Markham; C F Inglehearn; A J Churchill
Journal:  Hum Mol Genet       Date:  2001-06-15       Impact factor: 6.150

9.  Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects.

Authors:  B Kjer; H Eiberg; P Kjer; T Rosenberg
Journal:  Acta Ophthalmol Scand       Date:  1996-02

10.  OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion.

Authors:  Christian Frezza; Sara Cipolat; Olga Martins de Brito; Massimo Micaroni; Galina V Beznoussenko; Tomasz Rudka; Davide Bartoli; Roman S Polishuck; Nika N Danial; Bart De Strooper; Luca Scorrano
Journal:  Cell       Date:  2006-07-14       Impact factor: 41.582

  10 in total
  7 in total

Review 1.  Mitochondrial oxidative damage and apoptosis in age-related hearing loss.

Authors:  Shinichi Someya; Tomas A Prolla
Journal:  Mech Ageing Dev       Date:  2010-04-29       Impact factor: 5.432

Review 2.  ROS as Regulators of Mitochondrial Dynamics in Neurons.

Authors:  Carolina Cid-Castro; Diego Rolando Hernández-Espinosa; Julio Morán
Journal:  Cell Mol Neurobiol       Date:  2018-04-23       Impact factor: 5.046

Review 3.  Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Authors:  Patrick Yu-Wai-Man; Philip G Griffiths; Patrick F Chinnery
Journal:  Prog Retin Eye Res       Date:  2010-11-26       Impact factor: 21.198

4.  Multi-system neurological disease is common in patients with OPA1 mutations.

Authors:  P Yu-Wai-Man; P G Griffiths; G S Gorman; C M Lourenco; A F Wright; M Auer-Grumbach; A Toscano; O Musumeci; M L Valentino; L Caporali; C Lamperti; C M Tallaksen; P Duffey; J Miller; R G Whittaker; M R Baker; M J Jackson; M P Clarke; B Dhillon; B Czermin; J D Stewart; G Hudson; P Reynier; D Bonneau; W Marques; G Lenaers; R McFarland; R W Taylor; D M Turnbull; M Votruba; M Zeviani; V Carelli; L A Bindoff; R Horvath; P Amati-Bonneau; P F Chinnery
Journal:  Brain       Date:  2010-02-15       Impact factor: 13.501

5.  Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.

Authors:  Barend F T Hogewind; Ronald J E Pennings; Frans A Hol; Henricus P M Kunst; Elisabeth H Hoefsloot; Johannes R M Cruysberg; Cor W R J Cremers
Journal:  Mol Vis       Date:  2010-01-12       Impact factor: 2.367

Review 6.  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

7.  Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

Authors:  Ronen Spiegel; Ann Saada; Padraig J Flannery; Florence Burté; Devorah Soiferman; Morad Khayat; Verónica Eisner; Eugene Vladovski; Robert W Taylor; Laurence A Bindoff; Avraham Shaag; Hanna Mandel; Ora Schuler-Furman; Stavit A Shalev; Orly Elpeleg; Patrick Yu-Wai-Man
Journal:  J Med Genet       Date:  2015-11-11       Impact factor: 6.318

  7 in total

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