Literature DB >> 23745665

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

S Donkervoort1, J Dastgir, Y Hu, W M Zein, H Marks, C Blackstone, C G Bönnemann.   

Abstract

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Year:  2013        PMID： 23745665      PMCID： PMC5030767          DOI： 10.1111/cge.12185

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

1.  Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.

Authors:  Tyler Mark Pierson; Dimitre R Simeonov; Murat Sincan; David A Adams; Thomas Markello; Gretchen Golas; Karin Fuentes-Fajardo; Nancy F Hansen; Praveen F Cherukuri; Pedro Cruz; James C Mullikin; Craig Blackstone; Cynthia Tifft; Cornelius F Boerkoel; William A Gahl
Journal:  Eur J Hum Genet       Date:  2011-12-07       Impact factor: 4.246

2.  Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias.

Authors:  Susanne A Schneider; Kailash P Bhatia
Journal:  Ann Neurol       Date:  2010-11       Impact factor: 10.422

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

Authors:  A Tonelli; M G D'Angelo; F Arrigoni; E Brighina; A Arnoldi; A Citterio; N Bresolin; M T Bassi
Journal:  Eur J Neurol       Date:  2012-08-27       Impact factor: 6.089

4.  Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

Authors:  Michael C Kruer; Coro Paisán-Ruiz; Nathalie Boddaert; Moon Y Yoon; Hiroko Hama; Allison Gregory; Alessandro Malandrini; Randall L Woltjer; Arnold Munnich; Stephanie Gobin; Brenda J Polster; Silvia Palmeri; Simon Edvardson; John Hardy; Henry Houlden; Susan J Hayflick
Journal:  Ann Neurol       Date:  2010-11       Impact factor: 10.422

5.  Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?

Authors:  Rosemarie Rupps; Juliette Hukin; Martha Balicki; Saadet Mercimek-Mahmutoglu; Arndt Rolfs; Cristina Dias
Journal:  J Child Neurol       Date:  2012-09-10       Impact factor: 1.987

6.  Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

Authors:  Simon Edvardson; Hiroko Hama; Avraham Shaag; John Moshe Gomori; Itai Berger; Dov Soffer; Stanley H Korman; Ilana Taustein; Ann Saada; Orly Elpeleg
Journal:  Am J Hum Genet       Date:  2008-11       Impact factor: 11.025

7.  Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

Authors:  Katherine J Dick; Matthias Eckhardt; Coro Paisán-Ruiz; Aisha Alkhayat Alshehhi; Christos Proukakis; Naomi A Sibtain; Helena Maier; Reza Sharifi; Michael A Patton; Wafa Bashir; Roshan Koul; Sandy Raeburn; Volkmar Gieselmann; Henry Houlden; Andrew H Crosby
Journal:  Hum Mutat       Date:  2010-04       Impact factor: 4.878
  7 in total
  8 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

Review 5.  2'-Hydroxy ceramide in membrane homeostasis and cell signaling.

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

6.  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

7.  Independent Association of Plasma Hydroxysphingomyelins With Physical Function in the Atherosclerosis Risk in Communities (ARIC) Study.

Authors:  Danni Li; Jeffrey R Misialek; Fangying Huang; Gwen B Windham; Fang Yu; Alvaro Alonso
Journal:  J Gerontol A Biol Sci Med Sci       Date:  2018-07-09       Impact factor: 6.053

8.  A novel neurodegenerative spectrum disorder in patients with MLKL deficiency.

Authors:  Soren L Faergeman; Hayley Evans; Kathrine E Attfield; Christiane Desel; Subita Balaram Kuttikkatte; Mette Sommerlund; Lise Torp Jensen; Jorgen Frokiaer; Manuel A Friese; Paul M Matthews; Christian Luchtenborg; Britta Brügger; Annette Bang Oturai; Calliope A Dendrou; Lars Fugger
Journal:  Cell Death Dis       Date:  2020-05-01       Impact factor: 8.469
  8 in total

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