Guy Helman
13PUBLICATIONS
52CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (13)
Sort by Publication Date:
|Feb 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado
|Aug 10, 2022
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.Guy Helman, Parand Zarekiani, Samantha A M Tromp
|Jan 13, 2022
Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.Menno D Stellingwerff, Corinne Nulton, Guy Helman
|Aug 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.Claire G Salter, Yiying Cai, Bernice Lo
|Nov 10, 2020
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.Guy Helman, Alison G Compton, Daniella H Hock
|Sep 29, 2020
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description.Guy Helman, Angela N Viaene, Asako Takanohashi
Pageof 3
Frequent Collaborators
6 joint publications
Cas Simons
3 joint publications
Adeline Vanderver
2 joint publications
Nicole I Wolf
2 joint publications
John Christodoulou
2 joint publications
Daniella H Hock
2 joint publications
David A Stroud
2 joint publications
David R Thorburn
2 joint publications
Maha S Zaki
2 joint publications
Henry Houlden
1 joint publications
Johanna L Schmidt
