Clinical, neuroimaging, and molecular spectrum of <i>TECPR2</i> ‐associated hereditary sensory and autonomic neuropathy with intellectual disability
Journal
Human Mutation
ISSN
1059-7794
1098-1004
Date Issued
2021
Author(s)
Sonja Neuser
Barbara Brechmann
Gali Heimer
Ines Brösse
Susanna Schubert
Lauren O'Grady
Michael Zech
Siddharth Srivastava
David A. Sweetser
Yasemin Dincer
Volker Mall
Juliane Winkelmann
Christian Behrends
Basil T. Darras
Robert J. Graham
Parul Jayakar
Barry Byrne
Bat El Bar‐Aluma
Yael Haberman
Amir Szeinberg
Hesham M. Aldhalaan
Mais Hashem
Amal Al Tenaiji
Omar Ismayl
Asma E. Al Nuaimi
Karima Maher
Shahnaz Ibrahim
Fatima Khan
Henry Houlden
Vijayalakshmi S. Ramakumaran
Alistair T. Pagnamenta
Jennifer E. Posey
James R. Lupski
Wen‐Hann Tan
Gehad ElGhazali
Isabella Herman
Angelika Seitz
Mandy Krumbiegel
Usha Kini
Stephanie Efthymiou
Jens Meiler
Reza Maroofian
Fowzan S. Alkuraya
Rami Abou Jamra
Bernt Popp
Bruria Ben‐Zeev
Darius Ebrahimi‐Fakhari
Type
Resource Types::text::journal::journal article
URL Institutional Repository
Cite this document
Neuser, S., Brechmann, B., Heimer, G., Brösse, I., Schubert, S., O’Grady, L., Zech, M., Srivastava, S., Sweetser, D. A., Dincer, Y., Mall, V., Winkelmann, J., Behrends, C., Darras, B. T., Graham, R. J., Jayakar, P., Byrne, B., Bar‐Aluma, B. E., Haberman, Y., … Ebrahimi‐Fakhari, D. (2021). Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability. Human Mutation, 42(6), 762-776. https://doi.org/10.1002/humu.24206
Subjects
human phenotype ontology
;
neurodevelopmental disorder
;
sensory autonomic neuropathy
;
spastic paraplegia
;
tecpr2
;
adolescent
;
carrier proteins
;
child
;
child, preschool
;
cohort studies
;
cross-sectional studies
;
family
;
female
;
hereditary sensory and autonomic neuropathies
;
humans
;
infant
;
intellectual disability
;
magnetic resonance imaging
;
male
;
models, molecular
;
mutation, missense
;
nerve tissue proteins
;
neuroimaging
;
pedigree
;
phenotype
;
protein conformation
;
carrier protein
;
nerve protein
;
tecpr2 protein, human
;
article
;
ataxia
;
clinical assessment
;
corpus callosum
;
developmental delay
;
gene
;
gene frequency
;
gene locus
;
genetic association
;
hereditary sensory and autonomic neuropathy
;
human
;
hyporeflexia
;
intellectual impairment
;
missense mutation
;
muscle hypotonia
;
neuroimaging
;
nuclear magnetic resonance imaging
;
peripheral neuropathy
;
phenotype
;
priority journal
;
respiratory tract infection
;
sleep disordered breathing
;
spastic paraplegia
;
systematic review
;
tecpr2 gene
;
adolescent
;
chemistry
;
child
;
cohort analysis
;
complication
;
cross-sectional study
;
family
;
female
;
genetics
;
infant
;
intellectual impairment
;
male
;
molecular model
;
neuropathy
;
pathology
;
pedigree
;
preschool child
;
procedures
;
protein conformation