NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup-Reference-Cited by-同舟云学术

NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

Published:2017-03-21 Issue:1 Volume:18 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Elsaid Mahmoud F.,Ibrahim Khalid,Chalhoub Nader,Elsotouhy Ahmed,El Mudehki Noora,Abdel Aleem Alice

Funder

Qatar National Research Fund

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-017-0395-6.pdf

Reference16 articles.

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3. Novarino G, Fenstermaker A, Zaki M, et al. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders. Science. 2014;343:506–11.

4. Camici M, Micheli V, Ipata PL, Tozzi MG. Pediatric neurological syndromes and inborn errors of purine metabolism. Neurochem Int. 2010;56:367–78.

5. Matute C, Cavaliere F. Neuroglial interactions mediated by purinergic signalling in the pathophysiology of CNS disorders. Semin Cell Dev Biol. 2011;22:252–9.

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