Expanded phenotype in a patient with spastic paraplegia 7-Reference-Cited by-同舟云学术

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Expanded phenotype in a patient with spastic paraplegia 7

Published:2017-08-24 Issue:10 Volume:5 Page:1620-1622
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Gass Jennifer¹²^ORCID,Blackburn Patrick R.¹²^ORCID,Jackson Jessica²,Macklin Sarah²,van Gerpen Jay³,Atwal Paldeep S.¹²^ORCID

Affiliation:

1. Center for Individualized Medicine; Mayo Clinic; 4500 San Pablo Road South Jacksonville Florida 32224 USA

2. Department of Clinical Genomics; Mayo Clinic; 4500 San Pablo Road South Jacksonville Florida 32224 USA

3. Department of Neurology; Mayo Clinic; 4500 San Pablo Road South Jacksonville Florida 32224 USA

Publisher

Wiley

Subject

General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ccr3.1109/fullpdf

Reference16 articles.

1. Casari , G. R. Marconi Spastic Paraplegia 7 ® Seattle (WA) University of Washington, Seattle 1993

2. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms;Fink;Acta Neuropathol.,2013

3. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms;Lo Giudice;Exp. Neurol.,2014

4. Genetic and phenotypic characterization of complex hereditary spastic paraplegia;Kara;Brain,2016

5. A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia;Arnoldi;Hum. Mutat.,2008

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3. Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia;Movement Disorders Clinical Practice;2022-04

4. A rare cause of ataxia: SPG7 mutation;Turkish Journal Of Neurology;2021-11-12

5. Teaching Video NeuroImages: Palatal tremor associated with SPG7 variants;Neurology;2020-04-21

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