Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency-Reference-Cited by-同舟云学术

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency

Published:2016-05 Issue:3 Volume:20 Page:483-488
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Pavlidou Efterpi,Salpietro Vincenzo,Phadke Rahul,Hargreaves Iain P.,Batten Leigh,McElreavy Kenneth,Pitt Matthew,Mankad Kshitij,Wilson Clare,Cutrupi Maria Concetta,Ruggieri Martino,McCormick David,Saggar Anand,Kinali Maria

Publisher

Elsevier BV

Subject

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

Reference14 articles.

1. Clinical neuroradiological and genetic findings in pontocerebellar hypoplasia;Namavar;Brain,2011

2. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia;Namavar;Orphanet J Rare Dis,2011

3. Pontocerebellar hypoplasia type 2: a neuropathological update;Barth;Acta Neuropathol,2007

4. Novel mutations in TSEN54 in pontocerebelar hypoplasia type 2;Battini;J Child Neurol,2014

5. Natural course of pontocerebellar hypoplasia type 2A;Sánchez-Albisua;Orphanet J Rare Dis,2014

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