Literature DB >> 34405110

PHARC Syndrome, a Rare Genetic Disorder-Case Report.

Paulo André Dias Bastos1,2, Marcelo Mendonça2,3,4, Tânia Lampreia5, Marta Magriço2, Jorge Oliveira6, Raquel Barbosa2,3.   

Abstract

Entities:  

Keywords:  ABHD12; PHARC; ataxia; deaf‐blindness; polyneuropathy

Year:  2021        PMID： 34405110      PMCID： PMC8354082          DOI： 10.1002/mdc3.13266

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


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  5 in total

1.  Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.

Authors:  Dong-Hui Chen; Alipi Naydenov; Jacqueline L Blankman; Heather C Mefford; Marie Davis; Youngmee Sul; A Samuel Barloon; Emily Bonkowski; John Wolff; Mark Matsushita; Corrine Smith; Benjamin F Cravatt; Ken Mackie; Wendy H Raskind; Nephi Stella; Thomas D Bird
Journal:  Hum Mutat       Date:  2013-10-02       Impact factor: 4.878

Review 2.  A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.

Authors:  Justine Lerat; Pascal Cintas; Hélène Beauvais-Dzugan; Corinne Magdelaine; Franck Sturtz; Anne-Sophie Lia
Journal:  J Peripher Nerv Syst       Date:  2017-06       Impact factor: 3.494

3.  Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

Authors:  Marina Frasquet; Vincenzo Lupo; María José Chumillas; Juan Francisco Vázquez-Costa; Carmen Espinós; Teresa Sevilla
Journal:  J Neurol Sci       Date:  2018-02-07       Impact factor: 3.181

4.  Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.

Authors:  Torunn Fiskerstrand; Dorra H'mida-Ben Brahim; Stefan Johansson; Abderrahim M'zahem; Bjørn Ivar Haukanes; Nathalie Drouot; Julian Zimmermann; Andrew J Cole; Christian Vedeler; Cecilie Bredrup; Mirna Assoum; Meriem Tazir; Thomas Klockgether; Abdelmadjid Hamri; Vidar M Steen; Helge Boman; Laurence A Bindoff; Michel Koenig; Per M Knappskog
Journal:  Am J Hum Genet       Date:  2010-09-10       Impact factor: 11.025

5.  A novel Refsum-like disorder that maps to chromosome 20.

Authors:  T Fiskerstrand; P Knappskog; J Majewski; R J Wanders; H Boman; L A Bindoff
Journal:  Neurology       Date:  2008-11-12       Impact factor: 9.910
  5 in total

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