Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype–phenotype correlations and diagnostic guidelines based on new cases and overview of the literature-Reference-Cited by-同舟云学术

Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype–phenotype correlations and diagnostic guidelines based on new cases and overview of the literature

Published:2018-07 Issue:4 Volume:22 Page:674-681
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Ivanov I.,Atkinson D.^ORCID,Litvinenko I.,Angelova L.^ORCID,Andonova S.,Mumdjiev H.,Pacheva I.,Panova M.,Yordanova R.,Belovejdov V.,Petrova A.,Bosheva M.,Shmilev T.,Savov A.,Jordanova A.

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference29 articles.

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3. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations;Eggens;Orphanet J Rare Dis,2014

4. Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations;Rudnik-Schoneborn;Neurology,2013

5. The genetics of spinal muscular atrophy: progress and challenges;Farrar;Neurotherapeutics,2015

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