Literature DB >> 29112700

Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?

Rebecca Schüle1,2.   

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Year:  2017        PMID： 29112700      PMCID： PMC5841037          DOI： 10.1093/brain/awx282

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  14 in total

1.  PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.

Authors:  Matthis Synofzik; Michael A Gonzalez; Charles Marques Lourenco; Marie Coutelier; Tobias B Haack; Adriana Rebelo; Didier Hannequin; Tim M Strom; Holger Prokisch; Christoph Kernstock; Alexandra Durr; Ludger Schöls; Marcos M Lima-Martínez; Amjad Farooq; Rebecca Schüle; Giovanni Stevanin; Wilson Marques; Stephan Züchner
Journal:  Brain       Date:  2013-12-19       Impact factor: 13.501

2.  Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?

Authors:  Susanne de Bot; Erik-Jan Kamsteeg; Bart P C Van De Warrenburg
Journal:  Brain       Date:  2017-12-01       Impact factor: 13.501

3.  Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

Authors:  Alfredo Ramirez; André Heimbach; Jan Gründemann; Barbara Stiller; Dan Hampshire; L Pablo Cid; Ingrid Goebel; Ammar F Mubaidin; Abdul-Latif Wriekat; Jochen Roeper; Amir Al-Din; Axel M Hillmer; Meliha Karsak; Birgit Liss; C Geoffrey Woods; Maria I Behrens; Christian Kubisch
Journal:  Nat Genet       Date:  2006-09-10       Impact factor: 38.330

4.  PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.

Authors:  B Ozes; N Karagoz; R Schüle; A Rebelo; M-J Sobrido; F Harmuth; M Synofzik; S I P Pascual; M Colak; B Ciftci-Kavaklioglu; B Kara; A Ordóñez-Ugalde; B Quintáns; M A Gonzalez; A Soysal; S Zuchner; E Battaloglu
Journal:  Clin Genet       Date:  2017-04-19       Impact factor: 4.438

5.  Neuropathy target esterase gene mutations cause motor neuron disease.

Authors:  Shirley Rainier; Melanie Bui; Erin Mark; Donald Thomas; Debra Tokarz; Lei Ming; Colin Delaney; Rudy J Richardson; James W Albers; Nori Matsunami; Jeff Stevens; Hilary Coon; Mark Leppert; John K Fink
Journal:  Am J Hum Genet       Date:  2008-02-28       Impact factor: 11.025

Review 6.  Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.

Authors:  Connie Marras; Anthony Lang; Bart P van de Warrenburg; Carolyn M Sue; Sarah J Tabrizi; Lars Bertram; Saadet Mercimek-Mahmutoglu; Darius Ebrahimi-Fakhari; Thomas T Warner; Alexandra Durr; Birgit Assmann; Katja Lohmann; Vladimir Kostic; Christine Klein
Journal:  Mov Disord       Date:  2016-04       Impact factor: 10.338

7.  Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.

Authors:  Jose Bras; Alain Verloes; Susanne A Schneider; Sara E Mole; Rita J Guerreiro
Journal:  Hum Mol Genet       Date:  2012-03-02       Impact factor: 6.150

8.  Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

Authors:  Bart P van de Warrenburg; Meyke I Schouten; Susanne T de Bot; Sascha Vermeer; Rowdy Meijer; Maartje Pennings; Christian Gilissen; Michèl Aap Willemsen; Hans Scheffer; Erik-Jan Kamsteeg
Journal:  Eur J Hum Genet       Date:  2016-05-11       Impact factor: 4.246

9.  Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

Authors:  Susanne A Schneider; Petr Dusek; John Hardy; Ana Westenberger; Joseph Jankovic; Kailash P Bhatia
Journal:  Curr Neuropharmacol       Date:  2013-01       Impact factor: 7.363

10.  Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.

Authors:  Sarah Wiethoff; Conceição Bettencourt; Reema Paudel; Prochi Madon; Yo-Tsen Liu; Joshua Hersheson; Noshir Wadia; Joy Desai; Henry Houlden
Journal:  Cerebellum       Date:  2017-02       Impact factor: 3.847
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  2 in total

1.  FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Authors:  Tim W Rattay; Tobias Lindig; Jonathan Baets; Katrien Smets; Tine Deconinck; Anne S Söhn; Konstanze Hörtnagel; Kathrin N Eckstein; Sarah Wiethoff; Jennifer Reichbauer; Marion Döbler-Neumann; Ingeborg Krägeloh-Mann; Michaela Auer-Grumbach; Barbara Plecko; Alexander Münchau; Bernd Wilken; Marc Janauschek; Anne-Katrin Giese; Jan L De Bleecker; Els Ortibus; Martine Debyser; Adolfo Lopez de Munain; Aurora Pujol; Maria Teresa Bassi; Maria Grazia D'Angelo; Peter De Jonghe; Stephan Züchner; Peter Bauer; Ludger Schöls; Rebecca Schüle
Journal:  Brain       Date:  2019-06-01       Impact factor: 13.501

2.  Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia.

Authors:  Yasuko Odake; Kishin Koh; Yoshihisa Takiyama; Hiroyuki Ishiura; Shoji Tsuji; Masahito Yamada; Mitsuhiro Yoshita
Journal:  Neurol Genet       Date:  2020-09-08
  2 in total

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