Pascal and Francis Bibliographic Databases

Help

Search results

Your search

au.\*:("FRONTALI, M")

Publication Year[py]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Discipline (document) [di]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Author Country

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Results 1 to 25 of 38

  • Page / 2
Export

Selection :

  • and

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashionLEE, J.-M; RAMOS, E. M; MARGOLIS, R. L et al.Neurology. 2012, Vol 78, Num 10, pp 690-695, issn 0028-3878, 6 p.Article

Construction of a YAC contig covering human chromosome 6p22MALASPINA, P; ROETTO, A; TRETTEL, F et al.Genomics (San Diego, Calif.). 1996, Vol 36, Num 3, pp 399-407, issn 0888-7543Article

Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington diseaseNOVELLETTO, A; PERSICHETTI, F; GUSELLA, J. F et al.Human molecular genetics (Print). 1994, Vol 3, Num 7, pp 1129-1132, issn 0964-6906Article

The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite lociJODICE, C; FRONTALI, M; PLASMATI, R et al.Human molecular genetics (Print). 1993, Vol 2, Num 9, pp 1383-1387, issn 0964-6906Article

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington diseaseDJOUSSE, L; KNOWLTON, B; MORRISON, P. J et al.American journal of medical genetics. 2003, Vol 119A, Num 3, pp 279-282, issn 0148-7299, 4 p.Article

Family and molecular data for a fine analysis of age at onset in Huntington diseaseSQUITIERI, F; SABBADINI, G; NOVELLETTO, A et al.American journal of medical genetics. 2000, Vol 95, Num 4, pp 366-373, issn 0148-7299Article

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families: Frequency, clinical and genetic correlatesGIUNTI, P; SABBADINI, G; SWEENEY, M. G et al.Brain. 1998, Vol 121, pp 459-467, issn 0006-8950, 3Article

Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia IJODICE, C; MALASPINA, P; PERSICHETTI, F et al.American journal of human genetics. 1994, Vol 54, Num 6, pp 959-965, issn 0002-9297Article

The gene for autosomal dominant spinocerebellar ataxia (SCAI) maps telomeric to te HLA complex and is closely linked to the D6S89 locus in three large kindredsZOGHBI, H. Y; JODICE, C; FRONTALI, M et al.American journal of human genetics. 1991, Vol 49, Num 1, pp 23-30, issn 0002-9297Article

Riluzole in cerebellar ataxia: A randomized, double-blind, placebo-controlled pilot trialRISTORI, G; ROMANO, S; VISCONTI, A et al.Neurology. 2010, Vol 74, Num 10, pp 839-845, issn 0028-3878, 7 p.Article

Non-dyt1 dystonia in a large Italian familyBENTIVOGLIO, A. R; DEL GROSSO, N; ALBANESE, A et al.Journal of neurology, neurosurgery and psychiatry. 1997, Vol 62, Num 4, pp 357-360, issn 0022-3050Article

The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxiasGIUNTI, P; SWEENEY, M. G; SPADARO, M et al.Brain. 1994, Vol 117, pp 645-649, issn 0006-8950, 4Article

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locusKWIATKOWSKI, T. J; ORR, H. T; SUBRAMONY, S. H et al.American journal of human genetics. 1993, Vol 53, Num 2, pp 391-400, issn 0002-9297Article

DNA markers in diagnosis of adult dominant polycystic kidney diseaseVENEZIANO, L; D'ANGELO, A. R; BURRAI, L et al.European urology. 1992, Vol 21, pp 57-59, issn 0302-2838, SUP1Conference Paper

Non-random association between DNA markers and Huntington disease locus in the Italian populationNOVELLETTO, A; MANDICH, P; BELLONE, E et al.American journal of medical genetics. 1991, Vol 40, Num 3, pp 374-376, issn 0148-7299Article

Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overviewFRONTALI, M; STOMEO, C; DALLAPICCOLA, B et al.American journal of medical genetics. 1985, Vol 22, Num 1, pp 35-47, issn 0148-7299Article

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disordersMANTUANO, E; VENEZIANO, L; JODICE, C et al.Cytogenetic and genome research. 2003, Vol 100, Num 1-4, pp 147-153, issn 1424-8581, 7 p.Article

Italian family with cranial cervical dystonia : Clinical and genetic studyCASSETTA, E; DEL GROSSO, N; BENTIVOGLIO, A. R et al.Movement disorders. 1999, Vol 14, Num 5, pp 820-825, issn 0885-3185Article

Acetazolamide-responsive episodic ataxia in an italian family refines gene mapping on chromosome 19p13CALANDRIELLO, L; VENEZIANO, L; FRONTALI, M et al.Brain. 1997, Vol 120, pp 805-812, issn 0006-8950, 5Article

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) : clinical, neuroimaging, pathological and genetic study of a large Italian familySABBADINI, G; FRANCIA, A; CALANDRIELLO, L et al.Brain. 1995, Vol 118, pp 207-215, issn 0006-8950, 1Article

Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington diseaseNOVELLETTO, A; PERSICHETTI, F; FRONTALI, M et al.Human molecular genetics (Print). 1994, Vol 3, Num 1, pp 93-98, issn 0964-6906Article

Child with manifestations of dermotrichic syndrome an ichthyosis follicularirs-alopecia-photophobia (IFAP) syndromeMARTINO, F; D'EUFEMIA, P; PERGOLA, M. S et al.American journal of medical genetics. 1992, Vol 44, Num 2, pp 233-236, issn 0148-7299Article

Mapping of cosmid clones in Huntington's disease region of chromosome 4WHALEY, W. L; BATES, G. P; BAXENDALE, S et al.Somatic cell and molecular genetics. 1991, Vol 17, Num 1, pp 83-91, issn 0740-7750, 9 p.Article

Phenotypic characterization of individuals with 30-40 CAG repeat in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeatsRUBINSZTEIN, D. C; LEGGO, J; CURTIS, D et al.American journal of human genetics. 1996, Vol 59, Num 1, pp 16-22, issn 0002-9297Article

Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1 : a population genetics model for CAG repeat expansionsFRONTALI, M; SABBADINI, G; MALASPINA, P et al.Annals of human genetics. 1996, Vol 60, pp 423-435, issn 0003-4800, 5Article

  • Page / 2