Early-onset phenotype of bi-allelic GRN mutations
Brain
.
2021 Mar 3;144(2):e22.
doi: 10.1093/brain/awaa414.
Authors
Caroline Neuray
1
2
,
Tipu Sultan
3
,
Javeira Raza Alvi
3
,
Marcondes C Franca
4
,
Birgit Assmann
5
,
Matias Wagner
6
7
,
Laura Canafoglia
8
,
Silvana Franceschetti
8
,
Giacomina Rossi
9
,
Isabel Santana
10
11
,
Maria C Macario
10
11
,
Maria R Almeida
11
12
,
Mahesh Kamate
13
,
Sumit Parikh
14
,
Houda Zghal Elloumi
15
,
David Murphy
1
,
Stephanie Efthymiou
1
,
Reza Maroofian
1
,
Henry Houlden
1
Affiliations
1
UCL Queen Square Institute of Neurology, University College London, London, UK.
2
Department of Neurology, Christian Doppler Klinik, Paracelsus Medical University, Salzburg, Austria.
3
Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, Pakistan.
4
Department of Neurology, School of Medical Sciences, University of Campinas - UNICAMP, Campinas, Sao Paulo, Brazil.
5
Department of Paediatrics, Medizinische Universität Heidelberg, Germany.
6
Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany.
7
Institute of Human Genetics, Technical University Munich, Munich, Germany.
8
Neurolophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
9
Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
10
Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
11
Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.
12
Laboratory of Neurogenetics, Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra, Portugal.
13
Division of Pediatric Neurology, Department of Pediatrics, Kaher-University's J N Medical College, Belgaum, India.
14
Department of Mitochondrial Medicine and Neurogenetics, Cleveland Clinic, Cleveland, USA.
15
GeneDx, Gaithersburg, MD, USA.
PMID:
33351065
DOI:
10.1093/brain/awaa414
No abstract available
Publication types
Letter
Research Support, Non-U.S. Gov't
Comment
MeSH terms
Alleles
Homozygote
Mutation / genetics
Phenotype
Grants and funding
WT093205 MA/WT_/Wellcome Trust/United Kingdom
WT104033AIA/WT_/Wellcome Trust/United Kingdom
MR/S01165X/1/MRC_/Medical Research Council/United Kingdom
MR/S005021/1/MRC_/Medical Research Council/United Kingdom
G0601943/MRC_/Medical Research Council/United Kingdom