Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family-Reference-Cited by-同舟云学术

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Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family

Published:2014-04-16 Issue:5 Volume:49 Page:774-775
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Ilgaz Aydinlar Elif¹,Rolfs Arndt²,Serteser Mustafa³,Parman Yesim⁴

Affiliation:

1. Department of Neurology; Acibadem University School of Medicine; Gulsuyu mah, Fevzi Cakmak Cad. Divan Sok Maltepe 34848 Istanbul Turkey

2. Rostock University School of Medicine; Department of Neurology; Rostock Germany

3. Acıbadem University School of Medicine; Department of Medical Biochemistry; Istanbul Turkey

4. Istanbul University School of Medicine, Istanbul Faculty; Department of Neurology Istanbul; Turkey

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.24145/fullpdf

Reference8 articles.

1. Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship;Ota;Arch Neurol,1973

2. Mutations in FAM134B, encoding a newly identified Golgi protein, causing severe sensory and autonomic neuropathy;Kurth;Nat Genet,2009

3. Mutation in FAM134B causing severe hereditary sensory neuropathy;Murphy;J Neurol Neurosurg Psychiatry,2012

4. Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1;Bouhouche;Eur J Hum Genet,2005

5. Hereditary sensory and autonomic neuropathy with autonomic crises: a Turkish variant of familial dysautonomia?;Koy;J Child Neurol,2012

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1. Ataxia and spasticity;Neurogenetics for the Practitioner;2024

2. Phenotypic features of RETREG1‐related hereditary sensory autonomic neuropathy;Journal of the Peripheral Nervous System;2023-07-24

3. Molecular characterization of wild-type and HSAN2B-linked FAM134B;Molecular Biology Reports;2023-06-05

4. Intracellular Citrate/acetyl-CoA flux and endoplasmic reticulum acetylation: Connectivity is the answer;Molecular Metabolism;2023-01

5. Acetyl-CoA and acetylation in biology and disease;Cellular Lipid in Health and Disease;2023

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