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Trinucleotide repeat length instability and age of onset in Huntington's disease
MP Duyao, CM Ambrose, RH Myers, A Novelletto, F Persichetti, M Frontali, ...
Nature genetics 4 (4), 387-392, 1993
13681993
Phenotypic characterization of individuals with 30–40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals …
DC Rubinsztein, J Leggo, R Coles, E Almqvist, V Biancalana, ...
American journal of human genetics 59 (1), 16, 1996
7021996
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
6752001
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
JM Lee, EM Ramos, JH Lee, T Gillis, JS Mysore, MR Hayden, SC Warby, ...
Neurology 78 (10), 690-695, 2012
4182012
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
3502010
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p
C Jodice, E Mantuano, L Veneziano, F Trettel, G Sabbadini, ...
Human molecular genetics 6 (11), 1973-1978, 1997
3501997
Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
DJH Moss, AF Pardiñas, D Langbehn, K Lo, BR Leavitt, R Roos, A Durr, ...
The Lancet Neurology 16 (9), 701-711, 2017
2882017
The Huntington's disease candidate region exhibits many different haplotypes
ME MacDonald, A Novelletto, C Lin, D Tagle, G Barnes, G Bates, S Taylor, ...
Nature genetics 1 (2), 99-103, 1992
2201992
Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial
S Romano, G Coarelli, C Marcotulli, L Leonardi, F Piccolo, M Spadaro, ...
The Lancet Neurology 14 (10), 985-991, 2015
2162015
Riluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled pilot trial
G Ristori, S Romano, A Visconti, S Cannoni, M Spadaro, M Frontali, ...
Neurology 74 (10), 839-845, 2010
2122010
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease
L Djousse, B Knowlton, M Hayden, EW Almqvist, R Brinkman, C Ross, ...
American journal of medical genetics Part A 119 (3), 279-282, 2003
2112003
Recommendations for the predictive genetic test in Huntington's disease
R MacLeod, A Tibben, M Frontali, G Evers‐Kiebooms, A Jones, ...
Clinical genetics 83 (3), 221-231, 2013
2062013
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study
JL Li, MR Hayden, EW Almqvist, RR Brinkman, A Durr, C Dodé, ...
The American Journal of Human Genetics 73 (3), 682-687, 2003
1912003
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2
S Guida, F Trettel, S Pagnutti, E Mantuano, A Tottene, L Veneziano, ...
The American Journal of Human Genetics 68 (3), 759-764, 2001
1912001
Effects of an intensive rehabilitation programme on patients with Huntington's disease: a pilot study
P Zinzi, D Salmaso, R De Grandis, G Graziani, S Maceroni, A Bentivoglio, ...
Clinical rehabilitation 21 (7), 603-613, 2007
1722007
A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs
M Spadaro, S Ursu, F Lehmann-Horn, V Liana, A Giovanni, G Paola, ...
Neurogenetics 5, 177-185, 2004
1622004
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.
C Jodice, P Malaspina, F Persichetti, A Novelletto, M Spadaro, P Giunti, ...
American journal of human genetics 54 (6), 959, 1994
1441994
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds
HY Zoghbi, C Jodice, LA Sandkuijl, TJ Kwiatkowski, AE McCall, ...
American journal of human genetics 49 (1), 23, 1991
1361991
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36. 13–36.32 in an Italian family with cranial‐cervical or upper limb onset
EM Valente, AR Bentivoglio, E Cassetta, PH Dixon, MB Davis, A Ferraris, ...
Annals of neurology 49 (3), 362-366, 2001
1322001
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.
P Giunti, G Sabbadini, MG Sweeney, MB Davis, L Veneziano, ...
Brain: a journal of neurology 121 (3), 459-467, 1998
1311998
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