Enza Maria Valente
Enza Maria Valente
Professor of Medical Genetics, University of Pavia
Verified email at unipv.it
Title
Cited by
Cited by
Year
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
10519*2021
Hereditary early-onset Parkinson's disease caused by mutations in PINK1
EM Valente, PM Abou-Sleiman, V Caputo, MMK Muqit, K Harvey, ...
science 304 (5674), 1158-1160, 2004
35072004
An SCN9A channelopathy causes congenital inability to experience pain
JJ Cox, F Reimann, AK Nicholas, G Thornton, E Roberts, K Springell, ...
Nature 444 (7121), 894-898, 2006
15972006
PINK1 mutations are associated with sporadic early‐onset parkinsonism
EM Valente, S Salvi, T Ialongo, R Marongiu, AE Elia, V Caputo, L Romito, ...
Annals of neurology 56 (3), 336-341, 2004
5982004
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36
EM Valente, AR Bentivoglio, PH Dixon, A Ferraris, T Ialongo, M Frontali, ...
The American Journal of Human Genetics 68 (4), 895-900, 2001
5952001
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
L Silvestri, V Caputo, E Bellacchio, L Atorino, B Dallapiccola, EM Valente, ...
Human molecular genetics 14 (22), 3477-3492, 2005
5212005
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands
L Padua, M LoMonaco, B Gregori, EM Valente, R Padua, P Tonali
Acta Neurologica Scandinavica 96 (4), 211-217, 1997
4811997
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
EM Valente, JL Silhavy, F Brancati, G Barrano, SR Krishnaswami, ...
Nature genetics 38 (6), 623-625, 2006
4552006
Joubert Syndrome and related disorders
F Brancati, B Dallapiccola, EM Valente
Orphanet journal of rare diseases 5 (1), 1-10, 2010
4122010
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
3862015
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations
N Revencu, LM Boon, JB Mulliken, O Enjolras, MR Cordisco, PE Burrows, ...
Human mutation 29 (7), 959-965, 2008
3842008
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
3642007
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
SL Bielas, JL Silhavy, F Brancati, MV Kisseleva, L Al-Gazali, L Sztriha, ...
Nature genetics 41 (9), 1032-1036, 2009
3632009
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
V Cantagrel, JL Silhavy, SL Bielas, D Swistun, SE Marsh, JY Bertrand, ...
The American Journal of Human Genetics 83 (2), 170-179, 2008
3482008
Translation initiator EIF4G1 mutations in familial Parkinson disease
MC Chartier-Harlin, JC Dachsel, C Vilariño-Güell, SJ Lincoln, F Leprêtre, ...
The American Journal of Human Genetics 89 (3), 398-406, 2011
3252011
Joubert syndrome: congenital cerebellar ataxia with the molar tooth
M Romani, A Micalizzi, EM Valente
The Lancet Neurology 12 (9), 894-905, 2013
3092013
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
EM Valente, CV Logan, S Mougou-Zerelli, JH Lee, JL Silhavy, F Brancati, ...
Nature genetics 42 (7), 619-625, 2010
2812010
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study
OA Ross, AI Soto-Ortolaza, MG Heckman, JO Aasly, N Abahuni, G Annesi, ...
The Lancet Neurology 10 (10), 898-908, 2011
2792011
Motile and non‐motile cilia in human pathology: from function to phenotypes
HM Mitchison, EM Valente
The Journal of pathology 241 (2), 294-309, 2017
2702017
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy
S Michiorri, V Gelmetti, E Giarda, F Lombardi, F Romano, R Marongiu, ...
Cell Death & Differentiation 17 (6), 962-974, 2010
2652010
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