Guy Helman
Guy Helman
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
American journal of medical genetics Part A 167 (2), 296-312, 2015
Case definition and classification of leukodystrophies and leukoencephalopathies
A Vanderver, M Prust, D Tonduti, F Mochel, HM Hussey, G Helman, ...
Molecular genetics and metabolism 114 (4), 494-500, 2015
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
S Parikh, G Bernard, RJ Leventer, MS van der Knaap, J van Hove, ...
Molecular genetics and metabolism 114 (4), 501-515, 2015
Whole exome sequencing in patients with white matter abnormalities
A Vanderver, C Simons, G Helman, J Crawford, NI Wolf, G Bernard, ...
Annals of neurology 79 (6), 1031-1037, 2016
SCN8A encephalopathy: Research progress and prospects
MH Meisler, G Helman, MF Hammer, BE Fureman, WD Gaillard, ...
Epilepsia 57 (7), 1027-1035, 2016
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect
C Simons, LB Griffin, G Helman, G Golas, A Pizzino, M Bloom, ...
The American Journal of Human Genetics 96 (4), 675-681, 2015
Janus kinase inhibition in the Aicardi–Goutières syndrome
A Vanderver, L Adang, F Gavazzi, K McDonald, G Helman, DB Frank, ...
New England Journal of Medicine 383 (10), 986-989, 2020
Update on leukodystrophies: a historical perspective and adapted definition
SH Kevelam, ME Steenweg, S Srivastava, G Helman, S Naidu, ...
Neuropediatrics 47 (06), 349-354, 2016
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome
R La Piana, C Uggetti, F Roncarolo, A Vanderver, I Olivieri, D Tonduti, ...
Neurology 86 (1), 28-35, 2016
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy
C Simons, D Dyment, SJ Bent, J Crawford, M D’Hooghe, A Kohlschütter, ...
Brain 140 (12), 3105-3111, 2017
Disease specific therapies in leukodystrophies and leukoencephalopathies
G Helman, K Van Haren, JL Bonkowsky, G Bernard, A Pizzino, ...
Molecular genetics and metabolism 114 (4), 527-536, 2015
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes
J Curiel, G Rodríguez Bey, A Takanohashi, M Bugiani, X Fu, NI Wolf, ...
Human molecular genetics 26 (22), 4506-4518, 2017
TUBB4A de novo mutations cause isolated hypomyelination
A Pizzino, TM Pierson, Y Guo, G Helman, S Fortini, K Guerrero, S Saitta, ...
Neurology 83 (10), 898-902, 2014
Heterozygous variants in the mechanosensitive ion channel TMEM63A result in transient hypomyelination during infancy
H Yan, G Helman, SE Murthy, H Ji, J Crawford, T Kubisiak, SJ Bent, J Xiao, ...
The American Journal of Human Genetics 105 (5), 996-1004, 2019
Early-onset Aicardi-Goutieres syndrome: magnetic resonance imaging (MRI) pattern recognition
A Vanderver, M Prust, N Kadom, S Demarest, YJ Crow, G Helman, ...
Journal of child neurology 30 (10), 1343-1348, 2015
Consensus statement on preventive and symptomatic care of leukodystrophy patients
K Van Haren, JL Bonkowsky, G Bernard, JL Murphy, A Pizzino, G Helman, ...
Molecular genetics and metabolism 114 (4), 516-526, 2015
Neonatal detection of Aicardi Goutières syndrome by increased C26: 0 lysophosphatidylcholine and interferon signature on newborn screening blood spots
T Armangue, JJ Orsini, A Takanohashi, F Gavazzi, A Conant, N Ulrick, ...
Molecular genetics and metabolism 122 (3), 134-139, 2017
Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy
G Helman, L Caldovic, MT Whitehead, C Simons, K Brockmann, ...
Annals of neurology 79 (3), 379-386, 2016
Aicardi goutières syndrome is associated with pulmonary hypertension
LA Adang, DB Frank, A Gilani, A Takanohashi, N Ulrick, A Collins, Z Cross, ...
Molecular genetics and metabolism 125 (4), 351-358, 2018
The urea cycle disorders
G Helman, I Pacheco-Colón, AL Gropman
Seminars in neurology 34 (03), 341-349, 2014
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