Literature DB >> 24366652

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

Martial Mallaret1, Ouhaid Lagha-Boukbiza, Saskia Biskup, Izzie Jacques Namer, Gabrielle Rudolf, Mathieu Anheim, Christine Tranchant.   

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Year:  2013        PMID： 24366652     DOI： 10.1007/s00415-013-7216-4

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


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  7 in total

1.  Atypical juvenile parkinsonism in a consanguineous SPG15 family.

Authors:  Julia Schicks; Matthis Synofzik; Hjörvar Pétursson; Johanna Huttenlocher; Matthias Reimold; Ludger Schöls; Peter Bauer
Journal:  Mov Disord       Date:  2011-01-06       Impact factor: 10.338

2.  Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish.

Authors:  Elodie Martin; Constantin Yanicostas; Agnès Rastetter; Seyedeh Maryam Alavi Naini; Alissia Maouedj; Edor Kabashi; Sophie Rivaud-Péchoux; Alexis Brice; Giovanni Stevanin; Nadia Soussi-Yanicostas
Journal:  Neurobiol Dis       Date:  2012-07-16       Impact factor: 5.996

3.  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

4.  SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

Authors:  Mathieu Anheim; Clotilde Lagier-Tourenne; Giovanni Stevanin; Marie Fleury; Alexandra Durr; Izzie Jacques Namer; Paola Denora; Alexis Brice; Jean-Louis Mandel; Michel Koenig; Christine Tranchant
Journal:  J Neurol       Date:  2009-02-09       Impact factor: 4.849

5.  SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.

Authors:  C Goizet; A Boukhris; D Maltete; L Guyant-Maréchal; J Truchetto; E Mundwiller; S Hanein; P Jonveaux; F Roelens; J Loureiro; E Godet; S Forlani; J Melki; M Auer-Grumbach; J C Fernandez; P Martin-Hardy; I Sibon; G Sole; I Orignac; C Mhiri; P Coutinho; A Durr; A Brice; G Stevanin
Journal:  Neurology       Date:  2009-10-06       Impact factor: 9.910

6.  Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

Authors:  Sylvain Hanein; Elodie Martin; Amir Boukhris; Paula Byrne; Cyril Goizet; Abdelmadjid Hamri; Ali Benomar; Alexander Lossos; Paola Denora; José Fernandez; Nizar Elleuch; Sylvie Forlani; Alexandra Durr; Imed Feki; Michael Hutchinson; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Giovanni Stevanin
Journal:  Am J Hum Genet       Date:  2008-04       Impact factor: 11.025

7.  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
  7 in total
  6 in total

1.  Decreasing 123I-ioflupane SPECT accumulation and 123I-MIBG myocardial scintigraphy uptake in a patient with a novel homozygous mutation in the ZFYVE26 gene.

Authors:  Kishin Koh; Mai Tsuchiya; Takamura Nagasaka; Kazumasa Shindo; Yoshihisa Takiyama
Journal:  Neurol Sci       Date:  2018-10-16       Impact factor: 3.307

2.  Phenotypic Variability with Two Novel Variants in SPG15: Catching the Lynx by its Ears.

Authors:  Mellany Tuesta Bernaola; Jacky Ganguly; Saurabh Bansal; Mandar Jog
Journal:  Mov Disord Clin Pract       Date:  2022-06-01

3.  Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias.

Authors:  Kyle Denton; Yongchao Mou; Chong-Chong Xu; Dhruvi Shah; Jaerak Chang; Craig Blackstone; Xue-Jun Li
Journal:  Hum Mol Genet       Date:  2018-07-15       Impact factor: 6.150

Review 4.  A Practical Approach to Early-Onset Parkinsonism.

Authors:  Giulietta M Riboldi; Emanuele Frattini; Edoardo Monfrini; Steven J Frucht; Alessio Di Fonzo
Journal:  J Parkinsons Dis       Date:  2022       Impact factor: 5.568

5.  Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.

Authors:  Jennifer Hirst; James R Edgar; Typhaine Esteves; Frédéric Darios; Marianna Madeo; Jaerak Chang; Ricardo H Roda; Alexandra Dürr; Mathieu Anheim; Cinzia Gellera; Jun Li; Stephan Züchner; Caterina Mariotti; Giovanni Stevanin; Craig Blackstone; Michael C Kruer; Margaret S Robinson
Journal:  Hum Mol Genet       Date:  2015-06-17       Impact factor: 6.150

6.  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
  6 in total

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