Literature DB >> 30150100

Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration.

Alice Poisson1, Nicolas Chatron2, Audrey Labalme2, Marianne Till2, Emmanuel Broussolle3, Damien Sanlaville2, Caroline Demily4, Gaetan Lesca2.   

Abstract

Entities:  

Year:  2018        PMID： 30150100     DOI： 10.1016/j.biopsych.2018.05.010

Source DB:  PubMed          Journal:  Biol Psychiatry        ISSN： 0006-3223            Impact factor:   13.382


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  2 in total

1.  Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.

Authors:  Sofía Sánchez-Iglesias; Melissa Crocker; Mar O'Callaghan; Alejandra Darling; Angels García-Cazorla; Rosario Domingo-Jiménez; Ana Castro; Antía Fernández-Pombo; Álvaro Ruibal; Pablo Aguiar; Miguel Garrido-Pumar; Antonio Rodríguez-Núñez; Julián Álvarez-Escudero; Rebecca J Brown; David Araújo-Vilar
Journal:  Neurogenetics       Date:  2019-03-23       Impact factor: 2.660

2.  Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report.

Authors:  Stefania Pedicelli; Luca de Palma; Caterina Pelosini; Marco Cappa
Journal:  Ital J Pediatr       Date:  2020-10-24       Impact factor: 2.638
  2 in total

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