Literature DB >> 22488858

Rapid genetic diagnosis in single-gene movement disorders.

Andrew B Singleton.   

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Year:  2012        PMID: 22488858      PMCID: PMC3325505          DOI: 10.1002/mds.24896

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


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  23 in total

1.  Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.

Authors:  K Gwinn-Hardy; J Y Chen; H C Liu; T Y Liu; M Boss; W Seltzer; A Adam; A Singleton; W Koroshetz; C Waters; J Hardy; M Farrer
Journal:  Neurology       Date:  2000-09-26       Impact factor: 9.910

2.  Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.

Authors:  T Kitada; S Asakawa; N Hattori; H Matsumine; Y Yamamura; S Minoshima; M Yokochi; Y Mizuno; N Shimizu
Journal:  Nature       Date:  1998-04-09       Impact factor: 49.962

3.  Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing.

Authors:  Ruth H Walker; Vincent P Schulz; Irina R Tikhonova; Milind C Mahajan; Shrikant Mane; Maritza Arroyo Muniz; Patrick G Gallagher
Journal:  Mov Disord       Date:  2011-10-28       Impact factor: 10.338

4.  Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family.

Authors:  K Gwinn-Hardy; A Singleton; P O'Suilleabhain; M Boss; D Nicholl; A Adam; J Hussey; P Critchley; J Hardy; M Farrer
Journal:  Arch Neurol       Date:  2001-02

5.  Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.

Authors:  Vincenzo Bonifati; Patrizia Rizzu; Marijke J van Baren; Onno Schaap; Guido J Breedveld; Elmar Krieger; Marieke C J Dekker; Ferdinando Squitieri; Pablo Ibanez; Marijke Joosse; Jeroen W van Dongen; Nicola Vanacore; John C van Swieten; Alexis Brice; Giuseppe Meco; Cornelia M van Duijn; Ben A Oostra; Peter Heutink
Journal:  Science       Date:  2002-11-21       Impact factor: 47.728

6.  Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians.

Authors:  S H Subramony; Dena Hernandez; Amanda Adam; Stephanie Smith-Jefferson; Jennifer Hussey; Katrina Gwinn-Hardy; Timothy Lynch; Olga McDaniel; John Hardy; Matt Farrer; Andrew Singleton
Journal:  Mov Disord       Date:  2002-09       Impact factor: 10.338

7.  Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.

Authors:  Alexander Zimprich; Saskia Biskup; Petra Leitner; Peter Lichtner; Matthew Farrer; Sarah Lincoln; Jennifer Kachergus; Mary Hulihan; Ryan J Uitti; Donald B Calne; A Jon Stoessl; Ronald F Pfeiffer; Nadja Patenge; Iria Carballo Carbajal; Peter Vieregge; Friedrich Asmus; Bertram Müller-Myhsok; Dennis W Dickson; Thomas Meitinger; Tim M Strom; Zbigniew K Wszolek; Thomas Gasser
Journal:  Neuron       Date:  2004-11-18       Impact factor: 17.173

8.  PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

Authors:  Neil V Morgan; Shawn K Westaway; Jenny E V Morton; Allison Gregory; Paul Gissen; Scott Sonek; Hakan Cangul; Jason Coryell; Natalie Canham; Nardo Nardocci; Giovanna Zorzi; Shanaz Pasha; Diana Rodriguez; Isabelle Desguerre; Amar Mubaidin; Enrico Bertini; Richard C Trembath; Alessandro Simonati; Carolyn Schanen; Colin A Johnson; Barbara Levinson; C Geoffrey Woods; Beth Wilmot; Patricia Kramer; Jane Gitschier; Eamonn R Maher; Susan J Hayflick
Journal:  Nat Genet       Date:  2006-06-18       Impact factor: 38.330

9.  Hereditary early-onset Parkinson's disease caused by mutations in PINK1.

Authors:  Enza Maria Valente; Patrick M Abou-Sleiman; Viviana Caputo; Miratul M K Muqit; Kirsten Harvey; Suzana Gispert; Zeeshan Ali; Domenico Del Turco; Anna Rita Bentivoglio; Daniel G Healy; Alberto Albanese; Robert Nussbaum; Rafael González-Maldonado; Thomas Deller; Sergio Salvi; Pietro Cortelli; William P Gilks; David S Latchman; Robert J Harvey; Bruno Dallapiccola; Georg Auburger; Nicholas W Wood
Journal:  Science       Date:  2004-04-15       Impact factor: 47.728

10.  Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.

Authors:  Coro Paisán-Ruíz; Shushant Jain; E Whitney Evans; William P Gilks; Javier Simón; Marcel van der Brug; Adolfo López de Munain; Silvia Aparicio; Angel Martínez Gil; Naheed Khan; Janel Johnson; Javier Ruiz Martinez; David Nicholl; Itxaso Martí Carrera; Amets Saénz Pena; Rohan de Silva; Andrew Lees; José Félix Martí-Massó; Jordi Pérez-Tur; Nick W Wood; Andrew B Singleton
Journal:  Neuron       Date:  2004-11-18       Impact factor: 17.173

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  1 in total

1.  PLA2G6 -Associated Neurodegeneration: Report of a Novel Mutation in Two Siblings with Strikingly Different Clinical Presentation.

Authors:  Paula Pérez-Torre; Alfonso Escobar Villalba; Pedro Martínez Ulloa; Michal Kawiorski; Adriano Jiménez-Escrig; Eulalia Bazán; Rafael Gonzalo-Gobernado; Antonio S Herranz
Journal:  Mov Disord Clin Pract       Date:  2016-11-04
  1 in total

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