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paola carrera
paola carrera
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Cited by
Year
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1268-1283. e6, 2018
5702018
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19
T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ...
Science immunology 6 (62), eabl4348, 2021
3162021
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia
S Battistini, S Stenirri, M Piatti, C Gelfi, PG Righetti, R Rocchi, F Giannini, ...
Neurology 53 (1), 38-38, 1999
2381999
A common mutation in the surfactant protein C gene associated with lung disease
HS Cameron, M Somaschini, P Carrera, A Hamvas, JA Whitsett, SE Wert, ...
The Journal of pediatrics 146 (3), 370-375, 2005
2112005
Three new familial hemiplegic migraine mutants affect P/Q-type Ca2+ channel kinetics
RL Kraus, MJ Sinnegger, A Koschak, H Glossmann, S Stenirri, P Carrera, ...
Journal of Biological Chemistry 275 (13), 9239-9243, 2000
1922000
Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities
C Di Resta, S Galbiati, P Carrera, M Ferrari
Ejifcc 29 (1), 4, 2018
1682018
Phenotypic clustering of lamin A/C mutations in neuromuscular patients
S Benedetti, I Menditto, M Degano, C Rodolico, L Merlini, A D’Amico, ...
Neurology 69 (12), 1285-1292, 2007
1612007
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis
S Bandres‐Ciga, AJ Noyce, G Hemani, A Nicolas, A Calvo, G Mora, ...
Annals of neurology 85 (4), 470-481, 2019
1602019
SOD1 mutations in amyotrophic lateral sclerosis: results from a multicenter Italian study
S Battistini, F Giannini, G Greco, G Bibbò, L Ferrera, V Marini, ...
Journal of neurology 252, 782-788, 2005
1422005
Genetic heterogeneity in Italian families with familial hemiplegic migraine
P Carrera, M Piatti, S Stenirri, LME Grimaldi, E Marchioni, M Curcio, ...
Neurology 53 (1), 26-26, 1999
1221999
A role for N-myristoylation in protein targeting: NADH-cytochrome b5 reductase requires myristic acid for association with outer mitochondrial but not ER membranes.
N Borgese, D Aggujaro, P Carrera, G Pietrini, M Bassetti
The Journal of cell biology 135 (6), 1501-1513, 1996
1181996
Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency
P Carrera, L Bordone, T Azzani, V Brunelli, MP Garancini, G Chiumello, ...
Human genetics 98, 662-665, 1996
991996
The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena …
A Solazzo, F Testa, S Giovanella, M Busutti, L Furci, P Carrera, M Ferrari, ...
PLoS One 13 (1), e0190430, 2018
942018
Unexplained neonatal respiratory distress due to congenital surfactant deficiency
M Somaschini, LM Nogee, I Sassi, O Danhaive, S Presi, R Boldrini, ...
The Journal of pediatrics 150 (6), 649-653. e1, 2007
872007
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy
S Benedetti, E Bertini, S Iannaccone, C Angelini, M Trisciani, D Toniolo, ...
Journal of Neurology, Neurosurgery & Psychiatry 76 (7), 1019-1021, 2005
872005
Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives
S Gori, M Barberis, MA Bella, F Buttitta, E Capoluongo, P Carrera, ...
Critical Reviews in Oncology/Hematology 140, 67-72, 2019
702019
A single mRNA, transcribed from an alternative, erythroid-specific, promoter, codes for two non-myristylated forms of NADH-cytochrome b5 reductase
G Pietrini, D Aggujaro, P Carrera, J Malyszko, A Vitale, N Borgese
The Journal of cell biology 117 (5), 975-986, 1992
671992
Structural and functional brain signatures of C9orf72 in motor neuron disease
F Agosta, PM Ferraro, N Riva, EG Spinelli, T Domi, P Carrera, M Copetti, ...
Neurobiology of Aging 57, 206-219, 2017
652017
Planning the human variome project: the Spain report
J Kaput, RGH Cotton, L Hardman, M Watson, AI Al Aqeel, JY Al‐Aama, ...
Human mutation 30 (4), 496-510, 2009
652009
Recommendations for locus‐specific databases and their curation
RGH Cotton, AD Auerbach, JS Beckmann, OO Blumenfeld, AJ Brookes, ...
Human mutation 29 (1), 2-5, 2008
632008
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