Henry Houlden
0000-0002-2866-7777
Publication & Citation Trends
Publications
1,450 total
Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.
Cited by 0
Semantic Scholar
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction
Cited by 0
Semantic Scholar
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
Cited by 0
Semantic Scholar
Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder
Cited by 0
Semantic Scholar
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy
Cited by 1
Semantic Scholar
Corrigendum to "Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome" [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184].
Cited by 0
Semantic Scholar
Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54
Cited by 0
Semantic Scholar
Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management
Cited by 0
Semantic Scholar
Research Topics
Genetic Neurodegenerative Diseases
(313)
Hereditary Neurological Disorders
(233)
Neurological diseases and metabolism
(225)
Mitochondrial Function and Pathology
(209)
Genomics and Rare Diseases
(184)
Affiliations
University College Dublin
University of Siena
Tbilisi State University
University of Messina
Isfahan University of Medical Sciences