Literature DB >> 22925154

Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.

A Tonelli, M G D'Angelo, F Arrigoni, E Brighina, A Arnoldi, A Citterio, N Bresolin, M T Bassi.   

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Year:  2012        PMID： 22925154     DOI： 10.1111/j.1468-1331.2012.03838.x

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  10 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.  Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35.

Authors:  Cecilia Marelli; Mustafa A Salih; Karine Nguyen; Martial Mallaret; Nicolas Leboucq; Hamdy H Hassan; Nathalie Drouot; Pierre Labauge; Michel Koenig
Journal:  Mov Disord Clin Pract       Date:  2015-02-18

Review 3.  Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

Authors:  Francesco Mari; Beatrice Berti; Alessandro Romano; Jacopo Baldacci; Riccardo Rizzi; M Grazia Alessandrì; Alessandra Tessa; Elena Procopio; Anna Rubegni; Charles Marques Lourenḉo; Alessandro Simonati; Renzo Guerrini; Filippo Maria Santorelli
Journal:  Neurogenetics       Date:  2018-02-08       Impact factor: 2.660

Review 4.  Human genetic disorders of sphingolipid biosynthesis.

Authors:  Leonardo Astudillo; Frédérique Sabourdy; Nicole Therville; Heiko Bode; Bruno Ségui; Nathalie Andrieu-Abadie; Thorsten Hornemann; Thierry Levade
Journal:  J Inherit Metab Dis       Date:  2014-08-21       Impact factor: 4.982

5.  Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.

Authors:  S Donkervoort; J Dastgir; Y Hu; W M Zein; H Marks; C Blackstone; C G Bönnemann
Journal:  Clin Genet       Date:  2013-06-10       Impact factor: 4.438

Review 6.  Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).

Authors:  Susanne A Schneider; Kailash P Bhatia
Journal:  J Neural Transm (Vienna)       Date:  2012-12-02       Impact factor: 3.575

Review 7.  2'-Hydroxy ceramide in membrane homeostasis and cell signaling.

Authors:  Venkatesh Kota; Hiroko Hama
Journal:  Adv Biol Regul       Date:  2013-10-08

8.  Whole genome methylation analyses of schizophrenia patients before and after treatment.

Authors:  Blaga Rukova; Rada Staneva; Savina Hadjidekova; Georgi Stamenov; Vihra Milanova; Draga Toncheva
Journal:  Biotechnol Biotechnol Equip       Date:  2014-08-26       Impact factor: 1.632

9.  Hereditary Spastic Paraplegia Type 35 with a Novel Mutation in Fatty Acid 2-Hydroxylase Gene and Literature Review of the Clinical Features.

Authors:  Faruk Incecik; Seyda Besen; Sevcan Tug Bozdogan
Journal:  Ann Indian Acad Neurol       Date:  2018 Oct-Dec       Impact factor: 1.383

10.  Heterozygous FA2H mutations in autism spectrum disorders.

Authors:  Isabelle Scheid; Anna Maruani; Guillaume Huguet; Claire S Leblond; Gudrun Nygren; Henrik Anckarsäter; Anita Beggiato; Maria Rastam; Fréderique Amsellem; I Carina Gillberg; Monique Elmaleh; Marion Leboyer; Christopher Gillberg; Catalina Betancur; Mary Coleman; Hiroko Hama; Edwin H Cook; Thomas Bourgeron; Richard Delorme
Journal:  BMC Med Genet       Date:  2013-12-03       Impact factor: 2.103
  10 in total

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