Literature DB >> 20629148

Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: case report and literature review.

Araceli Alonso-Canovas, Petra Katschnig, Arianna Tucci, Miryam Carecchio, Nicholas W Wood, Mark Edwards, Juan Carlos Martínez Castrillo, Derek Burke, Simon Heales, Kailash P Bhatia.   

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Year:  2010        PMID： 20629148     DOI： 10.1002/mds.23109

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


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  7 in total

1.  A twelve-year follow-up study on a case of early-onset parkinsonism preceding clinical manifestation of Gaucher disease.

Authors:  Maciej Machaczka; Martin Paucar Arce; Malgorzata Rucinska; Takashi Yoshitake; Jan Kehr; Wojciech Jurczak; Aleksander B Skotnicki; Jan-Erik Månsson; Anna Tylki-Szymanska; Per Svenningsson
Journal:  JIMD Rep       Date:  2011-09-20

2.  The function of α-synuclein.

Authors:  Jacob T Bendor; Todd P Logan; Robert H Edwards
Journal:  Neuron       Date:  2013-09-18       Impact factor: 17.173

Review 3.  The link between the GBA gene and parkinsonism.

Authors:  Ellen Sidransky; Grisel Lopez
Journal:  Lancet Neurol       Date:  2012-11       Impact factor: 44.182

4.  Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.

Authors:  Derek G Burke; Ahad A Rahim; Simon N Waddington; Stefan Karlsson; Ida Enquist; Kailash Bhatia; Atul Mehta; Ashok Vellodi; Simon Heales
Journal:  J Inherit Metab Dis       Date:  2012-11-15       Impact factor: 4.982

5.  Fabry Disease With Concomitant Lewy Body Disease.

Authors:  Kelly Del Tredici; Albert C Ludolph; Simone Feldengut; Christian Jacob; Heinz Reichmann; Jürgen R Bohl; Heiko Braak
Journal:  J Neuropathol Exp Neurol       Date:  2020-04-01       Impact factor: 3.685

Review 6.  Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review.

Authors:  Federica Arienti; Giulia Lazzeri; Maria Vizziello; Edoardo Monfrini; Nereo Bresolin; Maria Cristina Saetti; Marina Picillo; Giulia Franco; Alessio Di Fonzo
Journal:  Cells       Date:  2021-01-15       Impact factor: 6.600

7.  Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.

Authors:  Kunal C Potnis; Lauren B Flueckinger; Stephanie M DeArmey; Roy N Alcalay; Jeffrey W Cooney; Priya S Kishnani
Journal:  Mol Genet Metab Rep       Date:  2018-10-18
  7 in total

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