Literature DB >> 30838319

SPG7: The Great Imitator of MSA-C Within the ILOCAs.

Paula Salgado1,2, Anna Latorre1,3, Claudia Del Gamba1,4, Elisa Menozzi1,5, Bettina Balint1,6, Kailash P Bhatia1.   

Abstract

Entities:  

Keywords:  ILOCA; MSA‐C; SPG7; cerebellar ataxia

Year:  2018        PMID： 30838319      PMCID： PMC6384173          DOI： 10.1002/mdc3.12711

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  11 in total

1.  Cerebellar and parkinsonian phenotypes in multiple system atrophy: similarities, differences and survival.

Authors:  Dusan Roncevic; Jose-Alberto Palma; Jose Martinez; Niamh Goulding; Lucy Norcliffe-Kaufmann; Horacio Kaufmann
Journal:  J Neural Transm (Vienna)       Date:  2013-12-15       Impact factor: 3.575

Review 2.  Multiple system atrophy of the cerebellar type: clinical state of the art.

Authors:  David J Lin; Katherine L Hermann; Jeremy D Schmahmann
Journal:  Mov Disord       Date:  2014-02-24       Impact factor: 10.338

3.  Patterns of dopamine transporter imaging in subtypes of multiple system atrophy.

Authors:  L-L Bu; F-T Liu; C-F Jiang; S-S Guo; H Yu; C-T Zuo; P Wu; J Wang
Journal:  Acta Neurol Scand       Date:  2018-03-24       Impact factor: 3.209

4.  SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

Authors:  Matthis Synofzik; Katrien Smets; Martial Mallaret; Daniela Di Bella; Constanze Gallenmüller; Jonathan Baets; Martin Schulze; Stefania Magri; Elisa Sarto; Mona Mustafa; Tine Deconinck; Tobias Haack; Stephan Züchner; Michael Gonzalez; Dagmar Timmann; Claudia Stendel; Thomas Klopstock; Alexandra Durr; Christine Tranchant; Marc Sturm; Wahiba Hamza; Lorenzo Nanetti; Caterina Mariotti; Michel Koenig; Ludger Schöls; Rebecca Schüle; Peter de Jonghe; Mathieu Anheim; Franco Taroni; Peter Bauer
Journal:  Brain       Date:  2016-04-17       Impact factor: 13.501

5.  Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

Authors:  Ilaria Giordano; Florian Harmuth; Heike Jacobi; Brigitte Paap; Stefan Vielhaber; Judith Machts; Ludger Schöls; Matthis Synofzik; Marc Sturm; Chantal Tallaksen; Iselin M Wedding; Sylvia Boesch; Andreas Eigentler; Bart van de Warrenburg; Judith van Gaalen; Christoph Kamm; Ales Dudesek; Jun-Suk Kang; Dagmar Timmann; Gabriella Silvestri; Marcella Masciullo; Thomas Klopstock; Christiane Neuhofer; Christos Ganos; Alessandro Filla; Peter Bauer; Sophie Tezenas du Montcel; Thomas Klockgether
Journal:  Neurology       Date:  2017-08-09       Impact factor: 9.910

6.  The aetiology of sporadic adult-onset ataxia.

Authors:  M Abele; K Bürk; L Schöls; S Schwartz; I Besenthal; J Dichgans; C Zühlke; O Riess; T Klockgether
Journal:  Brain       Date:  2002-05       Impact factor: 13.501

7.  Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

Authors:  Koen L I van Gassen; Charlotte D C C van der Heijden; Susanne T de Bot; Wilfred F A den Dunnen; Leonard H van den Berg; Corien C Verschuuren-Bemelmans; H P H Kremer; Jan H Veldink; Erik-Jan Kamsteeg; Hans Scheffer; Bart P van de Warrenburg
Journal:  Brain       Date:  2012-09-10       Impact factor: 13.501

8.  Multiple system atrophy with prolonged survival: is late onset of dysautonomia the clue?

Authors:  Giovanna Calandra-Buonaura; Pietro Guaraldi; Luisa Sambati; Giovanna Lopane; Annagrazia Cecere; Giorgio Barletta; Federica Provini; Manuela Contin; Paolo Martinelli; Pietro Cortelli
Journal:  Neurol Sci       Date:  2013-06-01       Impact factor: 3.307

9.  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

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
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  2 in total

1.  Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia.

Authors:  Michel Sáenz-Farret; Anthony E Lang; Lorraine Kalia; Inês Cunha; Mário Sousa; Greg Kuhlman; Christos Ganos; Renato P Munhoz; Alfonso Fasano; Carlos Eduardo Piña-Avilés; Carlos Zúñiga-Ramírez
Journal:  Mov Disord Clin Pract       Date:  2022-04-01

2.  Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7.

Authors:  Ivan Milenkovic; Sigrid Klotz; Gudrun Zulehner; Thomas Sycha; Gerald Wiest
Journal:  Ann Clin Transl Neurol       Date:  2019-10-10       Impact factor: 4.511
  2 in total

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