Literature DB >> 27080518

Movement disorders: Are umbrella terms for rare genetic diseases still useful?

Alexandra Durr1.   

Abstract

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Year:  2016        PMID： 27080518     DOI： 10.1038/nrneurol.2016.50

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN： 1759-4758            Impact factor:   42.937


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  10 in total

1.  A meta-analysis of coffee drinking, cigarette smoking, and the risk of Parkinson's disease.

Authors:  Miguel A Hernán; Bahi Takkouche; Francisco Caamaño-Isorna; Juan J Gestal-Otero
Journal:  Ann Neurol       Date:  2002-09       Impact factor: 10.422

2.  HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier.

Authors:  C A A Hewamadduma; J Kirby; C Kershaw; J Martindale; A Dalton; C J McDermott; P J Shaw
Journal:  Neurology       Date:  2008-05-06       Impact factor: 9.910

3.  Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

Authors:  J Hazan; N Fonknechten; D Mavel; C Paternotte; D Samson; F Artiguenave; C S Davoine; C Cruaud; A Dürr; P Wincker; P Brottier; L Cattolico; V Barbe; J M Burgunder; J F Prud'homme; A Brice; B Fontaine; B Heilig; J Weissenbach
Journal:  Nat Genet       Date:  1999-11       Impact factor: 38.330

4.  Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.

Authors:  Rebecca Schüle; Sarah Wiethoff; Peter Martus; Kathrin N Karle; Susanne Otto; Stephan Klebe; Sven Klimpe; Constanze Gallenmüller; Delia Kurzwelly; Dorothea Henkel; Florian Rimmele; Henning Stolze; Zacharias Kohl; Jan Kassubek; Thomas Klockgether; Stefan Vielhaber; Christoph Kamm; Thomas Klopstock; Peter Bauer; Stephan Züchner; Inga Liepelt-Scarfone; Ludger Schöls
Journal:  Ann Neurol       Date:  2016-03-11       Impact factor: 10.422

Review 5.  Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.

Authors:  Christos Proukakis; David Moore; Robyn Labrum; Nicholas W Wood; Henry Houlden
Journal:  J Neurol Sci       Date:  2011-05-05       Impact factor: 3.181

6.  Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

Authors:  N Fonknechten; D Mavel; P Byrne; C S Davoine; C Cruaud; D Bönsch; D Boentsch; D Samson; P Coutinho; M Hutchinson; P McMonagle; J M Burgunder; A Tartaglione; O Heinzlef; I Feki; T Deufel; N Parfrey; A Brice; B Fontaine; J F Prud'homme; J Weissenbach; A Dürr; J Hazan
Journal:  Hum Mol Genet       Date:  2000-03-01       Impact factor: 6.150

7.  Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Authors:  Stephan Klebe; Christel Depienne; Sylvie Gerber; Georges Challe; Mathieu Anheim; Perrine Charles; Estelle Fedirko; Elodie Lejeune; Julien Cottineau; Alfredo Brusco; Hélène Dollfus; Patrick F Chinnery; Cecilia Mancini; Xavier Ferrer; Guilhem Sole; Alain Destée; Jean-Michel Mayer; Bertrand Fontaine; Jérôme de Seze; Michel Clanet; Elisabeth Ollagnon; Philippe Busson; Cécile Cazeneuve; Giovanni Stevanin; Josseline Kaplan; Jean-Michel Rozet; Alexis Brice; Alexandra Durr
Journal:  Brain       Date:  2012-10       Impact factor: 13.501

8.  Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

Authors:  Giovanni Stevanin; Filippo M Santorelli; Hamid Azzedine; Paula Coutinho; Jacques Chomilier; Paola S Denora; Elodie Martin; Anne-Marie Ouvrard-Hernandez; Alessandra Tessa; Naïma Bouslam; Alexander Lossos; Perrine Charles; José L Loureiro; Nizar Elleuch; Christian Confavreux; Vítor T Cruz; Merle Ruberg; Eric Leguern; Djamel Grid; Meriem Tazir; Bertrand Fontaine; Alessandro Filla; Enrico Bertini; Alexandra Durr; Alexis Brice
Journal:  Nat Genet       Date:  2007-02-18       Impact factor: 38.330

9.  Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

Authors:  G Casari; M De Fusco; S Ciarmatori; M Zeviani; M Mora; P Fernandez; G De Michele; A Filla; S Cocozza; R Marconi; A Dürr; B Fontaine; A Ballabio
Journal:  Cell       Date:  1998-06-12       Impact factor: 41.582

10.  SPG7 mutations are a common cause of undiagnosed ataxia.

Authors:  Gerald Pfeffer; Angela Pyle; Helen Griffin; Jack Miller; Valerie Wilson; Lisa Turnbull; Katherine Fawcett; David Sims; Gail Eglon; Marios Hadjivassiliou; Rita Horvath; Andrea Németh; Patrick F Chinnery
Journal:  Neurology       Date:  2015-02-13       Impact factor: 11.800
  10 in total

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