Antonella Monticelli
Antonella Monticelli
Email verificata su ieos.cnr.it
TitoloCitata daAnno
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
V Campuzano, L Montermini, MD Moltò, L Pianese, M Cossée, ...
Science 271 (5254), 1423-1427, 1996
24931996
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.
A Filla, G De Michele, F Cavalcanti, L Pianese, A Monticelli, ...
American journal of human genetics 59 (3), 554, 1996
4871996
Increased BDNF promoter methylation in the Wernicke area of suicide subjects
S Keller, M Sarchiapone, F Zarrilli, A Videtič, A Ferraro, V Carli, ...
Archives of general psychiatry 67 (3), 258-267, 2010
2692010
The Friedreich ataxia GAA triplet repeat: premutation and normal alleles
L Montermini, E Andermann, M Labuda, A Richter, M Pandolfo, ...
Human molecular genetics 6 (8), 1261-1266, 1997
2181997
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24. 3
G De Michele, M De Fusco, F Cavalcanti, A Filla, R Marconi, G Volpe, ...
The American Journal of Human Genetics 63 (1), 135-139, 1998
1281998
Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.
G De Michele, A Filla, F Cavalcanti, L Di Maio, L Pianese, I Castaldo, ...
Journal of Neurology, Neurosurgery & Psychiatry 57 (8), 977-979, 1994
1281994
Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients
I De Biase, A Rasmussen, D Endres, S Al‐Mahdawi, A Monticelli, ...
Annals of neurology 61 (1), 55-60, 2007
1042007
PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia
D Marmolino, M Manto, F Acquaviva, P Vergara, A Ravella, A Monticelli, ...
Plos one 5 (4), e10025, 2010
942010
Frataxin fracas.
M Cossée, V Campuzano, H Koutnikova, K Fischbeck, JL Mandel, ...
Nature genetics 15 (4), 337, 1997
891997
The effect of parental gender on the GAA dynamic mutation in the FRDA gene.
L Pianese, F Cavalcanti, G De Michele, A Filla, G Campanella, ...
American journal of human genetics 60 (2), 460, 1997
821997
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients
I Castaldo, M Pinelli, A Monticelli, F Acquaviva, M Giacchetti, A Filla, ...
Journal of medical genetics 45 (12), 808-812, 2008
782008
A novel mutation in SACS gene in a family from southern Italy
C Criscuolo, S Banfi, M Orio, P Gasparini, A Monticelli, V Scarano, ...
Neurology 62 (1), 100-102, 2004
772004
The level of thyroglobulin mRNA is regulated by TSH both in vitro and in vivo
VE Avvedimento, D Tramontano, MV Ursini, A Monticelli, R Di Lauro
Biochemical and biophysical research communications 122 (1), 472-477, 1984
761984
Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers
L Pianese, M Turano, MSL Casale, I De Biase, M Giacchetti, A Monticelli, ...
Journal of Neurology, Neurosurgery & Psychiatry 75 (7), 1061-1063, 2004
752004
Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with …
G De Michele, F Cavalcanti, C Criscuolo, L Pianese, A Monticelli, A Filla, ...
Human molecular genetics 7 (12), 1901-1906, 1998
741998
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life
I De Biase, A Rasmussen, A Monticelli, S Al-Mahdawi, M Pook, ...
Genomics 90 (1), 1-5, 2007
722007
NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene
S Cocozza, A Porcellini, G Riccardi, A Monticelli, G Condorelli, A Ferrara, ...
Diabetes 41 (4), 521-526, 1992
671992
Broadened Friedreich's ataxia phenotype after gene cloning: minimal GAA expansion causes late-onset spastic ataxia
M Ragno, G De Michele, F Cavalcanti, L Pianese, A Monticelli, L Curatola, ...
Neurology 49 (6), 1617-1620, 1997
601997
Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia
LM Pollard, R Sharma, M Gomez, S Shah, MB Delatycki, L Pianese, ...
Nucleic acids research 32 (19), 5962-5971, 2004
592004
Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression
F Acquaviva, I Castaldo, A Filla, M Giacchetti, D Marmolino, A Monticelli, ...
The Cerebellum 7 (3), 360-365, 2008
572008
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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