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Adeline Vanderver
Adeline Vanderver
Professor of Neurology, University of Pennsylvania, Children's Hospital of Philadelphia
Verified email at chop.edu - Homepage
Title
Cited by
Cited by
Year
Mutations in ADAR1 cause Aicardi-Goutičres syndrome associated with a type I interferon signature
GI Rice, PR Kasher, GMA Forte, NM Mannion, SM Greenwood, ...
Nature genetics 44 (11), 1243-1248, 2012
8412012
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response
GI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ...
Nature genetics 41 (7), 829-832, 2009
7822009
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
GI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte, BH Anderson, ...
Nature genetics 46 (5), 503-509, 2014
5862014
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
5592015
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ...
The American Journal of Human Genetics 81 (4), 713-725, 2007
4652007
Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
GI Rice, GMA Forte, M Szynkiewicz, DS Chase, A Aeby, MS Abdel-Hamid, ...
The lancet neurology 12 (12), 1159-1169, 2013
4202013
Ubiquitous L1 mosaicism in hippocampal neurons
KR Upton, DJ Gerhardt, JS Jesuadian, SR Richardson, ...
Cell 161 (2), 228-239, 2015
3612015
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
LJC Wong, RK Naviaux, N Brunetti‐Pierri, Q Zhang, ES Schmitt, C Truong, ...
Human mutation 29 (9), E150-E172, 2008
3302008
Magnetic resonance imaging pattern recognition in hypomyelinating disorders
ME Steenweg, A Vanderver, S Blaser, A Bizzi, TJ De Koning, ...
Brain 133 (10), 2971-2982, 2010
2892010
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy
G Bernard, E Chouery, ML Putorti, M Tétreault, A Takanohashi, G Carosso, ...
The American Journal of Human Genetics 89 (3), 415-423, 2011
2552011
GFAP mutations, age at onset, and clinical subtypes in Alexander disease
M Prust, J Wang, H Morizono, A Messing, M Brenner, E Gordon, T Hartka, ...
Neurology 77 (13), 1287-1294, 2011
2412011
Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study
T Armangue, G Olivé-Cirera, E Martínez-Hernandez, M Sepulveda, ...
The Lancet Neurology 19 (3), 234-246, 2020
2402020
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
2382015
Novel (ovario) leukodystrophy related to AARS2 mutations
C Dallabona, D Diodato, SH Kevelam, TB Haack, LJ Wong, GS Salomons, ...
Neurology 82 (23), 2063-2071, 2014
2142014
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum
C Simons, NI Wolf, N McNeil, L Caldovic, JM Devaney, A Takanohashi, ...
The American Journal of Human Genetics 92 (5), 767-773, 2013
2052013
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
1972015
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
NI Wolf, A Vanderver, RML Van Spaendonk, R Schiffmann, B Brais, ...
Neurology 83 (21), 1898-1905, 2014
1932014
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity
RJ Taft, A Vanderver, RJ Leventer, SA Damiani, C Simons, SM Grimmond, ...
The American Journal of Human Genetics 92 (5), 774-780, 2013
1922013
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study
C Depienne, M Bugiani, C Dupuits, D Galanaud, V Touitou, N Postma, ...
The Lancet Neurology 12 (7), 659-668, 2013
1812013
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy
M Tétreault, K Choquet, S Orcesi, D Tonduti, U Balottin, M Teichmann, ...
The American Journal of Human Genetics 89 (5), 652-655, 2011
1642011
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