Two Novel Homozygous SACS Mutations in Unrelated Patients Including the First Reported Case of Paternal UPD as an Etiologic Cause of ARSACS

Author： Anesi Laura Gemmis Paola Pandolfo Massimo Hladnik Uros

Publisher： Humana Press, Inc

ISSN： 0895-8696

Source： Journal of Molecular Neuroscience, Vol.43, Iss.3, 2011-03, pp. : 346-349

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

By Richter Andrea Ozgul Riza Poisson Virginie Topaloglu Haluk

Neurogenetics, Vol. 5, Iss. 3, 2004-09 ,pp. : 165-170

Springer Publishing Company

Access to resources Recommend Favorite

Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy

By Önder Evren Sinici Incilay Sönmez F. Müjgan Topçu Meral Özkara H. Asuman

Neurological Research, Vol. 31, Iss. 1, 2009-02 ,pp. : 60-66

Maney Publishing

Access to resources Recommend Favorite

Brief Report: Eosinophilic Esophagitis as a Cause of Feeding Problems in Autistic Boy. The First Reported Case

By Jarocka-Cyrta Elżbieta Wasilewska Jolanta Kaczmarski Maciej

Journal of Autism and Developmental Disorders, Vol. 41, Iss. 3, 2011-03 ,pp. : 372-374

Springer Publishing Company

Access to resources Recommend Favorite

No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations

By Schwartz M. Vissing J.

Journal of the Neurological Sciences, Vol. 218, Iss. 1, 2004-03 ,pp. : 99-101

Elsevier

Access to resources Recommend Favorite

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

By Vermeer Sascha

Neurogenetics, Vol. 10, Iss. 1, 2009-02 ,pp. : 87-87

Springer Publishing Company

Access to resources Recommend Favorite