Search Results - "FRONTALI, M"

Recommendations for the predictive genetic test in Huntington's disease by MacLeod, R, Tibben, A, Frontali, M, Evers-Kiebooms, G, Jones, A, Martinez-Descales, A, Roos, RA

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Riluzole in cerebellar ataxia: A randomized, double-blind, placebo-controlled pilot trial by RISTORI, G, ROMANO, S, VISCONTI, A, CANNONI, S, SPADARO, M, FRONTALI, M, PONTIERI, F. E, VANACORE, N, SALVETTI, M

“…The pleiotropic effects of riluzole may antagonize common mechanisms underlying chronic cerebellar ataxia, a debilitating and untreatable consequence of…”
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Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p by Jodice, Carla, Mantuano, Elide, Veneziano, Liana, Trettel, Flavia, Sabbadini, Guglielmo, Calandriello, Luigi, Francia, Ada, Spadaro, Maria, Pierelli, Francesco, Salvi, Fabrizio, Ophoff, Roel A., Frants, Rune R., Frontali, Marina

“…Point mutations of the CACNA1A gene coding for the α1A voltage-dependent calcium channel subunit are responsible for familial hemiplegic migraine (FHM) and…”
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Another patient with 12q13 microduplication by Bertoli, M., Alesi, V., Gullotta, F., Zampatti, S., Abate, M.R., Palmieri, C., Novelli, A., Frontali, M., Nardone, A. M.

“…ABSTRACT Interstitial duplication of the long arm of chromosome 12 is a rare cytogenetic condition. While several reports describe distal 12q duplication, only…”
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Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders by Mantuano, E, Veneziano, L, Jodice, C, Frontali, M

“…Spinocerebellar ataxia type 6 (SCA6) is one of three allelic disorders caused by mutations of CACNA1A gene, coding for the pore-forming subunit of calcium…”
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Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2 by Mantuano, E, Veneziano, L, Spadaro, M, Giunti, P, Guida, S, Leggio, M G, Verriello, L, Wood, N, Jodice, C, Frontali, M

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The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families: Frequency, clinical and genetic correlates by GIUNTI, P, SABBADINI, G, SWEENEY, M. G, DAVIS, M. B, VENEZIANO, L, MANTUANO, E, FEDERICO, A, PLASMATI, R, FRONTALI, M, WOOD, N. W

“…The spinocerebellar ataxia type 2 (SCA2) is caused by a trinucleotide (CAG) expansion in the coding region of the ataxin 2 gene on chromosome 12q.89 families…”
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CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci by Frontali, M., Novelletto, A., Annesi, G., Jodice, C.

“…subunit of the voltage-gated calcium channel type P/Q coded by the…”
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Clinical, neuroimaging, pathological and genetic study of a large Italian family by Sabbadini, G, Francia, A, Calandriello, L, Di Biasi, C, Trasimeni, G, Gualdi, G F, Palladini, G, Manfredi, M, Frontali, M

“…Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare hereditary stroke disease. The gene has been…”
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Primary torsion dystonia: the search for genes is not over by Jarman, P R, del Grosso, N, Valente, E M, Leube, B, Cassetta, E, Bentivoglio, A R, Waddy, H M, Uitti, R J, Maraganore, D M, Albanese, A, Frontali, M, Auburger, G, Bressman, S B, Wood, N W, Nygaard, T G

“…A GAG deletion in the DYT1 gene accounts for most early, limb onset primary torsion dystonia (PTD). The genetic bases for the more common adult onset and focal…”
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Non-DYT1 dystonia in a large Italian family by Bentivoglio, A R, Del Grosso, N, Albanese, A, Cassetta, E, Tonali, P, Frontali, M

“…A large non-Jewish Italian family affected by idiopathic torsion dystonia with autosomal dominant transmission and almost complete penetrance is reported. The…”
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Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I by JODICE, C, MALASPINA, P, PERSICHETTI, F, NOVELLETTO, A, SPADARO, M, GIUNTI, P, MOROCUTTI, C, TERRENATO, L, HARDING, A. E, FRONTALI, M

“…Trinucleotide repeat expansion has been found in 64 subjects from 19 families: 57 patients with SCA1 and 7 subjects predicted, by haplotype analysis, to carry…”
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K09Commercially Available HD Predictive Test on Minors in Rome, Italy by Carriero, I, Frontali, M, Bentivoglio, A R

“…BackgroundBased on guidelines and international documents, predictive tests of unpreventable and untreatable late onset disorders, such as Huntington Disease…”
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K09 Commercially Available HD Predictive Test on Minors in Rome, Italy by Carriero, I., Frontali, M., Bentivoglio, A.

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The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias by Giunti, P, Sweeney, M G, Spadaro, M, Jodice, C, Novelletto, A, Malaspina, P, Frontali, M, Harding, A E

“…Affected members of 73 families with a variety of autosomal dominant late onset cerebellar ataxias (ADCAs) were investigated for the trinucleotide (CAG) repeat…”
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Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset by Valente, E M, Bentivoglio, A R, Cassetta, E, Dixon, P H, Davis, M B, Ferraris, A, Ialongo, T, Frontali, M, Wood, N W, Albanese, A

“…Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant fashion…”
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Phenotype variability of dystonia in monozygotic twins by Albanese, A, Bentivoglio, A R, Del Grosso, N, Cassetta, E, Frontali, M, Valente, E M, Tonali, P

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D01 Updating of guidelines for the molecular genetic predictive test in Huntington's disease (1994) by MacLeod, R, Tibben, A, Frontali, M

“…Background Guidelines for the molecular genetic predictive testing in Huntington's disease (HD) were issued in 1994, soon after the discovery of the gene…”
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Localization of a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, PARK6, on Human Chromosome 1p35-p36 by Valente, Enza Maria, Bentivoglio, Anna Rita, Dixon, Peter H., Ferraris, Alessandro, Ialongo, Tamara, Frontali, Marina, Albanese, Alberto, Wood, Nicholas W.

“…The cause of Parkinson disease (PD) is still unknown, but genetic factors have recently been implicated in the etiology of the disease. So far, four loci…”
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Neurofibromatosis type 2 appears to be a genetically homogeneous disease by NAROD, S. A, PARRY, D. M, GUSELLA, J. F, ROULEAU, G. A, PARBOOSINGH, J, LENOIR, G. M, RUTTLEDGE, M, FISCHER, G, ELDRIDGE, R, MARTUZA, R. L, FRONTALI, M, HAINES, J

“…Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome characterized by the development of vestibular schwannomas and other tumors of the nervous…”
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