Literature DB >> 30291339

A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1.

Nadine Ame van der Beek1, Isabelle Nelson2, Roseline Froissart3, Thierry Levade4, Virginie Garcia5, Emmanuelle Lacene6,7,8,9, Anne Boland7, Cécile Masson7,8, Norma B Romero6,7,8,9, Tanya Stojkovic9, Gisèle Bonne2, Anthony Béhin10.   

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Year:  2018        PMID： 30291339      PMCID： PMC6460556          DOI： 10.1038/s41431-018-0250-z

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  10 in total

1.  Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.

Authors:  Guido Rubboli; Pierangelo Veggiotti; Antonella Pini; Angela Berardinelli; Gaetano Cantalupo; Enrico Bertini; Francesco Danilo Tiziano; Adele D'Amico; Elena Piazza; Emanuela Abiusi; Stefania Fiori; Elena Pasini; Francesca Darra; Giuseppe Gobbi; Roberto Michelucci
Journal:  Epilepsia       Date:  2015-04-03       Impact factor: 5.864

2.  Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.

Authors:  Jie Zhou; Marcel Tawk; Francesco Danilo Tiziano; Julien Veillet; Monica Bayes; Flora Nolent; Virginie Garcia; Serenella Servidei; Enrico Bertini; Francesc Castro-Giner; Yavuz Renda; Stéphane Carpentier; Nathalie Andrieu-Abadie; Ivo Gut; Thierry Levade; Haluk Topaloglu; Judith Melki
Journal:  Am J Hum Genet       Date:  2012-06-14       Impact factor: 11.025

Review 3.  Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy.

Authors:  Edward H Schuchman
Journal:  Biochim Biophys Acta       Date:  2016-05-04

Review 4.  Spinal muscular atrophy associated with progressive myoclonus epilepsy.

Authors:  Haluk Topaloglu; Judith Melki
Journal:  Epileptic Disord       Date:  2016-09-01       Impact factor: 1.819

5.  Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

Authors:  Kristin D Kernohan; Laure Frésard; Zachary Zappala; Taila Hartley; Kevin S Smith; Justin Wagner; Hongbin Xu; Arran McBride; Pierre R Bourque; Care Rare Canada Consortium; Steffany A L Bennett; David A Dyment; Kym M Boycott; Stephen B Montgomery; Jodi Warman Chardon
Journal:  Hum Mutat       Date:  2017-03-28       Impact factor: 4.878

6.  Hereditary myoclonus and progressive distal muscular atrophy.

Authors:  J Jankovic; V M Rivera
Journal:  Ann Neurol       Date:  1979-09       Impact factor: 10.422

7.  Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency.

Authors:  Hooi Ling Teoh; Alexander Solyom; Edward H Schuchman; David Mowat; Tony Roscioli; Michelle Farrar; Hugo Sampaio
Journal:  Pediatrics       Date:  2016-09-20       Impact factor: 7.124

8.  ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

Authors:  Massimiliano Filosto; Massimo Aureli; Barbara Castellotti; Fabrizio Rinaldi; Domitilla Schiumarini; Manuela Valsecchi; Susanna Lualdi; Raffaella Mazzotti; Viviana Pensato; Silvia Rota; Cinzia Gellera; Mirella Filocamo; Alessandro Padovani
Journal:  Eur J Hum Genet       Date:  2016-03-30       Impact factor: 4.246

9.  Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy.

Authors:  Joanna J Gan; Virginie Garcia; Jane Tian; Michele Tagliati; Joseph E Parisi; Jeffrey M Chung; Richard Lewis; Robert Baloh; Thierry Levade; Tyler Mark Pierson
Journal:  Neuromuscul Disord       Date:  2015-09-16       Impact factor: 4.296

10.  Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.

Authors:  D A Dyment; E Sell; M R Vanstone; A C Smith; D Garandeau; V Garcia; S Carpentier; E Le Trionnaire; F Sabourdy; C L Beaulieu; J A Schwartzentruber; H J McMillan; J Majewski; D E Bulman; T Levade; K M Boycott
Journal:  Clin Genet       Date:  2013-11-21       Impact factor: 4.438
  10 in total

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