Jose T. Bras
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 8 publications
BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes.
Journal: Neurobiology of aging
Published: August 11, 2020
Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.
Journal: Journal of neurology
Published: June 02, 2020
Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity.
Journal: British journal of anaesthesia
Published: November 13, 2018
A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.
Journal: Brain : a journal of neurology
Published: June 30, 2017
An Aged Canid with Behavioral Deficits Exhibits Blood and Cerebrospinal Fluid Amyloid Beta Oligomers.
Journal: Frontiers in aging neuroscience
Published: May 23, 2017
TYROBP genetic variants in early-onset Alzheimer's disease.
Journal: Neurobiology of aging
Published: May 11, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 20, 2016
Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.
Journal: Alzheimer's & dementia : the journal of the Alzheimer's Association
Published: July 31, 2015
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Last Updated: 09/26/2026