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BARBARA CASTELLOTTI
BARBARA CASTELLOTTI
IRCCS Fondazione C.Besta Milano
Verifierad e-postadress på istituto-besta.it
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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
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
BN Smith, N Ticozzi, C Fallini, AS Gkazi, S Topp, KP Kenna, EL Scotter, ...
Neuron 84 (2), 324-331, 2014
4082014
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
D Di Bella, F Lazzaro, A Brusco, M Plumari, G Battaglia, A Pastore, ...
Nature genetics 42 (4), 313-321, 2010
3492010
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion
L Montermini, A Richeter, K Morgan, CM Justice, D Julien, B Castellotti, ...
Annals of Neurology: Official Journal of the American Neurological …, 1997
3001997
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
KP Kenna, PTC Van Doormaal, AM Dekker, N Ticozzi, BJ Kenna, ...
Nature genetics 48 (9), 1037-1042, 2016
2802016
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis
L Corrado, A Ratti, C Gellera, E Buratti, B Castellotti, Y Carlomagno, ...
Human mutation 30 (4), 688-694, 2009
2462009
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
2242019
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis
L Corrado, R Del Bo, B Castellotti, A Ratti, C Cereda, S Penco, G Sorarù, ...
Journal of medical genetics 47 (3), 190-194, 2010
2152010
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families
C Mariotti, C Gellera, M Rimoldi, R Mineri, G Uziel, G Zorzi, D Pareyson, ...
Neurological sciences 25, 130-137, 2004
1652004
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48
V Pensato, B Castellotti, C Gellera, D Pareyson, C Ciano, L Nanetti, ...
Brain 137 (7), 1907-1920, 2014
1582014
Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 …
C Mariotti, B Castellotti, D Pareyson, D Testa, M Eoli, C Antozzi, V Silani, ...
Neuromuscular Disorders 10 (6), 391-397, 2000
1542000
Mapping of genes predisposing to idiopathic generalized epilepsy
F Zara, A Blanchi, G Avanzini, SD Donato, B Castellotti, PI Patel, ...
Human molecular genetics 4 (7), 1201-1207, 1995
1491995
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis
C Gellera, C Colombrita, N Ticozzi, B Castellotti, C Bragato, A Ratti, ...
Neurogenetics 9, 33-40, 2008
1402008
A genome-wide association meta-analysis identifies a novel locus at 17q11. 2 associated with sporadic amyotrophic lateral sclerosis
I Fogh, A Ratti, C Gellera, K Lin, C Tiloca, V Moskvina, L Corrado, ...
Human molecular genetics 23 (8), 2220-2231, 2014
1372014
Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis
R Del Bo, C Tiloca, V Pensato, L Corrado, A Ratti, N Ticozzi, S Corti, ...
Journal of Neurology, Neurosurgery & Psychiatry 82 (11), 1239-1243, 2011
1172011
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
C Marini, A Porro, A Rastetter, C Dalle, I Rivolta, D Bauer, R Oegema, ...
Brain 141 (11), 3160-3178, 2018
1152018
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
A Ratti, L Corrado, B Castellotti, R Del Bo, I Fogh, C Cereda, C Tiloca, ...
Neurobiology of aging 33 (10), 2528. e7-2528. e14, 2012
1052012
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia
A Brussino, C Gellera, A Saluto, C Mariotti, C Arduino, B Castellotti, ...
Neurology 64 (1), 145-147, 2005
1012005
Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis
F Squitieri, A Berardelli, E Nargi, B Castellotti, C Mariotti, M Cannella, ...
Clinical genetics 58 (1), 50-56, 2000
1002000
Frataxin gene point mutations in Italian Friedreich ataxia patients
C Gellera, B Castellotti, C Mariotti, R Mineri, V Seveso, S DiDonato, ...
neurogenetics 8, 289-299, 2007
972007
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