Literature DB >> 22893306

Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11.

C M Everett, E Kara, K E Maresh, H Houlden.   

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Year:  2012        PMID： 22893306     DOI： 10.1007/s00415-012-6642-z

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


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  7 in total

1.  Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.

Authors:  Arianna Guidubaldi; Carla Piano; Filippo M Santorelli; Gabriella Silvestri; Martina Petracca; Alessandra Tessa; Anna Rita Bentivoglio
Journal:  Mov Disord       Date:  2011-03-04       Impact factor: 10.338

2.  SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.

Authors:  Roberto Del Bo; Alessio Di Fonzo; Serena Ghezzi; Federica Locatelli; Giovanni Stevanin; Antonella Costa; Stefania Corti; Nereo Bresolin; Giacomo Pietro Comi
Journal:  Neurogenetics       Date:  2007-08-24       Impact factor: 2.660

3.  SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.

Authors:  Antonio Orlacchio; Carla Babalini; Antonella Borreca; Clarice Patrono; Roberto Massa; Sarenur Basaran; Renato P Munhoz; Ekaterina A Rogaeva; Peter H St George-Hyslop; Giorgio Bernardi; Toshitaka Kawarai
Journal:  Brain       Date:  2010-01-28       Impact factor: 13.501

4.  Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

Authors:  Giovanni Stevanin; Hamid Azzedine; Paola Denora; Amir Boukhris; Meriem Tazir; Alexander Lossos; Alberto Luis Rosa; Israela Lerer; Abdelmadjid Hamri; Paulo Alegria; José Loureiro; Masayoshi Tada; Didier Hannequin; Mathieu Anheim; Cyril Goizet; Victoria Gonzalez-Martinez; Isabelle Le Ber; Sylvie Forlani; Kiyoshi Iwabuchi; Vardiela Meiner; Goekhan Uyanik; Anne Kjersti Erichsen; Imed Feki; Florence Pasquier; Soreya Belarbi; Vitor T Cruz; Christel Depienne; Jeremy Truchetto; Guillaume Garrigues; Chantal Tallaksen; Christine Tranchant; Masatoyo Nishizawa; José Vale; Paula Coutinho; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Alexandra Durr
Journal:  Brain       Date:  2007-12-13       Impact factor: 13.501

5.  Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.

Authors:  Coro Paisán-Ruiz; Rocio Guevara; Monica Federoff; Hasmet Hanagasi; Fardaz Sina; Elahe Elahi; Susanne A Schneider; Petra Schwingenschuh; Nin Bajaj; Murat Emre; Andrew B Singleton; John Hardy; Kailash P Bhatia; Sebastian Brandner; Andrew J Lees; Henry Houlden
Journal:  Mov Disord       Date:  2010-09-15       Impact factor: 10.338

6.  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

7.  Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

Authors:  C Paisan-Ruiz; P Nath; N W Wood; A Singleton; H Houlden
Journal:  Eur J Neurol       Date:  2008-08-20       Impact factor: 6.089
  7 in total
  1 in total

1.  Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Authors:  Eleanna Kara; Arianna Tucci; Claudia Manzoni; David S Lynch; Marilena Elpidorou; Conceicao Bettencourt; Viorica Chelban; Andreea Manole; Sherifa A Hamed; Nourelhoda A Haridy; Monica Federoff; Elisavet Preza; Deborah Hughes; Alan Pittman; Zane Jaunmuktane; Sebastian Brandner; Georgia Xiromerisiou; Sarah Wiethoff; Lucia Schottlaender; Christos Proukakis; Huw Morris; Tom Warner; Kailash P Bhatia; L V Prasad Korlipara; Andrew B Singleton; John Hardy; Nicholas W Wood; Patrick A Lewis; Henry Houlden
Journal:  Brain       Date:  2016-05-23       Impact factor: 15.255
  1 in total

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