Componenti

1. Mancini Cecilia (Assegnista)
2. Giorgio Elisa (Assegnista)
3. Di Gregorio Eleonora (Componente)
4. Riberi Evelise (Dottorando)
5. Marta Ferrero (Borsista)
6. Cavalieri Simona
7. Morgan Godstime Stephen (Studente)

Contatti

• 0116334480
• alfredo.brusco@unito.it
• Scrivi a tutti i componenti

Settore ERC

Prodotti della ricerca

Costantini A, Laureti T, Pala MI, Colangeli M, Cavalieri S, Pozzi E, Brusco A, Salvarani S, Serrati C, Fancellu R. (2016) Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia. Journal of neurology [DOI  PMID]

Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A. (2016) Cover Image, Volume 170A, Number 7, July 2016. American journal of medical genetics. Part A 170(7) i [DOI  PMID]

Borroni B, Di Gregorio E, Orsi L, Vaula G, Costanzi C, Tempia F, Mitro N, Caruso D, Manes M, Pinessi L, Padovani A, Brusco A, Boccone L. (2016) Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38). Parkinsonism & related disorders 28 80-6 [DOI  PMID]

von Lowtzow C, Hofmann A, Zhang R, Marsch F, Ebert AK, Rosch W, Stein R, Boemers TM, Hirsch K, Marcelis C, Feitz WF, Brusco A, Migone N, Di Grazia M, Moebus S, Nothen MM, Reutter H, Ludwig M, Draaken M. (2016) CNV analysis in 169 patients with bladder exstrophy-epispadias complex. BMC medical genetics 17(1) 35 [DOI  PMID]

Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A. (2016) Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples. American journal of medical genetics. Part A 170(7) 1772-9 [DOI  PMID]

Di Gregorio E, Gai G, Botta G, Calcia A, Pappi P, Talarico F, Savin E, Ribotta M, Zonta A, Mancini C, Giorgio E, Cavalieri S, Restagno G, Ferrero GB, Viora E, Pasini B, Grosso E, Brusco A, Brussino A. (2015) Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications. Cytogenetic and genome research 147(1) 10-6 [DOI  PMID]

Biamino E, Di Gregorio E, Belligni EF, Keller R, Riberi E, Gandione M, Calcia A, Mancini C, Giorgio E, Cavalieri S, Pappi P, Talarico F, Fea AM, De Rubeis S, Cirillo Silengo M, Ferrero GB, Brusco A. (2016) A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 171B(2) 290-9 [DOI  PMID]

Coutelier M, Blesneac I, Monteil A, Monin ML, Ando K, Mundwiller E, Brusco A, Le Ber I, Anheim M, Castrioto A, Duyckaerts C, Brice A, Durr A, Lory P, Stevanin G. (2015) A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia. American journal of human genetics 97(5) 726-37 [DOI  PMID]

Di Donato I, Stabile C, Bianchi S, Taglia I, Mignarri A, Salvatore S, Giorgio E, Brusco A, Simone I, Dotti MT, Federico A. (2015) A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids. Journal of Alzheimer's disease : JAD 47(2) 319-22 [DOI  PMID]

Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, Hakonarson H, Zhang X, Brusco A. (2015) An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2. BMC medical genetics 16 16 [DOI  PMID]

Squadrone S, Brizio P, Mancini C, Pozzi E, Cavalieri S, Abete MC, Brusco A. (2015) Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia. Neurobiology of disease 81 162-7 [DOI  PMID]

Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A. (2015) Two families with novel missense mutations in COL4A1: When diagnosis can be missed. Journal of the neurological sciences 352(1-2) 99-104 [DOI  PMID]

Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, Gasparini L, Ferrera D, Canale C, Guipponi M, Pennacchio LA, Antonarakis SE, Brussino A, Brusco A. (2015) A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD). Human molecular genetics 24(11) 3143-54 [DOI  PMID]

Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S. (2015) Messenger RNA processing is altered in autosomal dominant leukodystrophy. Human molecular genetics 24(10) 2746-56 [DOI  PMID]

Mandrile G, Di Gregorio E, Calcia A, Brussino A, Grosso E, Savin E, Giachino DF, Brusco A. (2014) A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. Case reports in genetics 2014 470830 [DOI  PMID]

Di Gregorio E, Savin E, Biamino E, Belligni EF, Naretto VG, D'Alessandro G, Gai G, Fiocchi F, Calcia A, Mancini C, Giorgio E, Cavalieri S, Talarico F, Pappi P, Gandione M, Grosso M, Asnaghi V, Restagno G, Mandrile G, Botta G, Silengo MC, Grosso E, Ferrero GB, Brusco A. (2014) Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. Molecular cytogenetics 7(1) 82 [DOI  PMID]

Maillard AM, Ruef A, Pizzagalli F, Migliavacca E, Hippolyte L, Adaszewski S, Dukart J, Ferrari C, Conus P, Mannik K, Zazhytska M, Siffredi V, Maeder P, Kutalik Z, Kherif F, Hadjikhani N, Beckmann JS, Reymond A, Draganski B, Jacquemont S. (2015) The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. Molecular psychiatry 20(1) 140-7 [DOI  PMID]

Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A. (2015) Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. Journal of neurology 262(1) 173-8 [DOI  PMID]

Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O. (2015) Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. European journal of human genetics : EJHG 23(8) 1025-32 [DOI  PMID]

Rubino E, Giorgio E, Gallone S, Pinessi L, Orsi L, Gentile S, Duca S, Brusco A. (2014) Novel mutation of SLC20A2 in an Italian patient presenting with migraine. Journal of neurology 261(10) 2019-21 [DOI  PMID]

Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A. (2014) ELOVL5 mutations cause spinocerebellar ataxia 38. American journal of human genetics 95(2) 209-17 [DOI  PMID]

Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schols L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. (2014) Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain : a journal of neurology 137(Pt 9) 2444-55 [DOI  PMID]

Novara F, Stanzial F, Rossi E, Benedicenti F, Inzana F, Di Gregorio E, Brusco A, Graakjaer J, Fagerberg C, Belligni E, Silengo M, Zuffardi O, Ciccone R. (2014) Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. American journal of medical genetics. Part A 164A(8) 2084-90 [DOI  PMID]

Calcia A, Gai G, Di Gregorio E, Talarico F, Naretto VG, Migone N, Pepe E, Grosso E, Brusco A. (2013) Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes. American journal of medical genetics. Part A 161A(10) 2656-62 [DOI  PMID]

Nanetti L, Cavalieri S, Pensato V, Erbetta A, Pareyson D, Panzeri M, Zorzi G, Antozzi C, Moroni I, Gellera C, Brusco A, Mariotti C. (2013) SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. Orphanet journal of rare diseases 8 123 [DOI  PMID]

Mancini C, Roncaglia P, Brussino A, Stevanin G, Lo Buono N, Krmac H, Maltecca F, Gazzano E, Bartoletti Stella A, Calvaruso MA, Iommarini L, Cagnoli C, Forlani S, Le Ber I, Durr A, Brice A, Ghigo D, Casari G, Porcelli AM, Funaro A, Gasparre G, Gustincich S, Brusco A. (2013) Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways. BMC medical genomics 6 22 [DOI  PMID]

Di Gregorio E, Bianchi FT, Schiavi A, Chiotto AM, Rolando M, Verdun di Cantogno L, Grosso E, Cavalieri S, Calcia A, Lacerenza D, Zuffardi O, Retta SF, Stevanin G, Marelli C, Durr A, Forlani S, Chelly J, Montarolo F, Tempia F, Beggs HE, Reed R, Squadrone S, Abete MC, Brussino A, Ventura N, Di Cunto F, Brusco A. (2013) A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. Journal of medical genetics 50(8) 543-51 [DOI  PMID]

Silengo M, Defilippi C, Belligni E, Biamino E, Flex E, Brusco A, Ferrero GB, Tartaglia M, Hennekam RC. (2013) Progressive extreme heterotopic calcification. American journal of medical genetics. Part A 161A(7) 1706-13 [DOI  PMID]

Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. (2013) Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Human mutation 34(8) 1160-71 [DOI  PMID]

Coppola A, Bagnasco I, Traverso M, Brusco A, Di Gregorio E, Del Gaudio L, Santulli L, Caccavale C, Vigliano P, Minetti C, Striano S, Zara F, Striano P. (2013) Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion. Epilepsia 54(5) e69-73 [DOI  PMID]

Brussino A, Brusco A, Durr A. (1993) Spinocerebellar Ataxia Type 28 [PMID]

Cavalieri S, Pozzi E, Gatti RA, Brusco A. (2013) Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO). European journal of human genetics : EJHG 21(7) 774-8 [DOI  PMID]

Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destee A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A. (2012) Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain : a journal of neurology 135(Pt 10) 2980-93 [DOI  PMID]

Zannolli R, Buoni S, Betti G, Salvucci S, Plebani A, Soresina A, Pietrogrande MC, Martino S, Leuzzi V, Finocchi A, Micheli R, Rossi LN, Brusco A, Misiani F, Fois A, Hayek J, Kelly C, Chessa L. (2012) A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia. Movement disorders : official journal of the Movement Disorder Society 27(10) 1312-6 [DOI  PMID]

Morone S, Lo-Buono N, Parrotta R, Giacomino A, Nacci G, Brusco A, Larionov A, Ostano P, Mello-Grand M, Chiorino G, Ortolan E, Funaro A. (2012) Overexpression of CD157 contributes to epithelial ovarian cancer progression by promoting mesenchymal differentiation. PloS one 7(8) e43649 [DOI  PMID]

Cirillo E, Romano R, Romano A, Giardino G, Durandy A, Nitsch L, Genesio R, Di Gregorio E, Cavalieri S, Abate G, Del Vecchio L, Brusco A, Pignata C. (2012) De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype. American journal of medical genetics. Part A 158A(10) 2571-6 [DOI  PMID]

Quarello P, Garelli E, Brusco A, Carando A, Mancini C, Pappi P, Vinti L, Svahn J, Dianzani I, Ramenghi U. (2012) High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay. Haematologica 97(12) 1813-7 [DOI  PMID]

Mancini C, Vaula G, Scalzitti L, Cavalieri S, Bertini E, Aiello C, Lucchini C, Gatti RA, Brussino A, Brusco A. (2012) Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide. Neurogenetics 13(3) 205-14 [DOI  PMID]

Belligni EF, Di Gregorio E, Biamino E, Calcia A, Molinatto C, Talarico F, Ferrero GB, Brusco A, Silengo MC. (2012) 790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism. European journal of medical genetics 55(3) 222-4 [DOI  PMID]

Mancini C, Messana E, Turco E, Brussino A, Brusco A. (2011) Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes. Biological procedures online 13 10 [DOI  PMID]

Nakamura K, Du L, Tunuguntla R, Fike F, Cavalieri S, Morio T, Mizutani S, Brusco A, Gatti RA. (2012) Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. Human mutation 33(1) 198-208 [DOI  PMID]

Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martinez-Fernandez ML, Martinez Guardia N, Bremer A, Anderlid BM, Zuffardi O. (2011) Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS genetics 7(7) e1002173 [DOI  PMID]

Corrado L, Mazzini L, Oggioni GD, Luciano B, Godi M, Brusco A, D'Alfonso S. (2011) ATXN-2 CAG repeat expansions are interrupted in ALS patients. Human genetics 130(4) 575-80 [DOI  PMID]

Castrioto A, Prontera P, Di Gregorio E, Rossi V, Parnetti L, Rossi A, Donti E, Brusco A, Calabresi P, Tambasco N. (2011) A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline. European journal of neurology 18(10) 1263-5 [DOI  PMID]

St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M. (2011) NT5E mutations and arterial calcifications. The New England journal of medicine 364(5) 432-42 [DOI  PMID]

Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, Holmes SE, Nobili M, Forlani S, Padovan S, Pappi P, Zaros C, Leber I, Ribai P, Pugliese L, Assalto C, Brice A, Migone N, Durr A, Brusco A. (2010) Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias. Human mutation 31(10) 1117-24 [DOI  PMID]

Brussino A, Graziano C, Giobbe D, Ferrone M, Dragone E, Arduino C, Lodi R, Tonon C, Gabellini A, Rinaldi R, Miccoli S, Grosso E, Bellati MC, Orsi L, Migone N, Brusco A. (2010) Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia. Movement disorders : official journal of the Movement Disorder Society 25(9) 1269-73 [DOI  PMID]

Sacco T, Boda E, Hoxha E, Pizzo R, Cagnoli C, Brusco A, Tempia F. (2010) Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease. BMC neuroscience 11 55 [DOI  PMID]

Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F. (2010) Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nature genetics 42(4) 313-21 [DOI  PMID]

Di Gregorio E, Orsi L, Godani M, Vaula G, Jensen S, Salmon E, Ferrari G, Squadrone S, Abete MC, Cagnoli C, Brussino A, Brusco A. (2010) Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15. Cerebellum (London, England) 9(1) 115-23 [DOI  PMID]

Brussino A, Vaula G, Cagnoli C, Panza E, Seri M, Di Gregorio E, Scappaticci S, Camanini S, Daniele D, Bradac GB, Pinessi L, Cavalieri S, Grosso E, Migone N, Brusco A. (2010) A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. European journal of neurology 17(4) 541-9 [DOI  PMID]

Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U. (2010) Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. Haematologica 95(2) 206-13 [DOI  PMID]

Brussino A, D'Alfonso S, Cagnoli C, Di Gregorio E, Barberis M, Padovan S, Vaula G, Pinessi L, Squadrone S, Abete MC, Collimedaglia L, Guerini FR, Migone N, Brusco A. (2009) Mutations in the lamin B1 gene are not present in multiple sclerosis. European journal of neurology 16(4) 544-6 [DOI  PMID]

Porcedda P, Turinetto V, Orlando L, Lantelme E, Brusco A, De Marchi M, Amoroso A, Ricardi U, Gregori D, Giachino C. (2009) Two-tier analysis of histone H2AX phosphorylation allows the identification of Ataxia Telangiectasia heterozygotes. Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 92(1) 133-7 [DOI  PMID]

Brussino A, Vaula G, Cagnoli C, Mauro A, Pradotto L, Daniele D, Di Gregorio E, Barberis M, Arduino C, Squadrone S, Abete MC, Migone N, Calabrese O, Brusco A. (2009) A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy. Journal of neurology, neurosurgery, and psychiatry 80(2) 237-40 [DOI  PMID]

Brusco A, Tagliaferro PA, Saez T, Onaivi ES. (2008) Ultrastructural localization of neuronal brain CB2 cannabinoid receptors. Annals of the New York Academy of Sciences 1139 450-7 [DOI  PMID]

Quarello P, Garelli E, Brusco A, Carando A, Pappi P, Barberis M, Coletti V, Campagnoli MF, Dianzani I, Ramenghi U. (2008) Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency. Haematologica 93(11) 1748-50 [DOI  PMID]

Mariotti C, Brusco A, Di Bella D, Cagnoli C, Seri M, Gellera C, Di Donato S, Taroni F. (2008) Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. Cerebellum (London, England) 7(2) 184-8 [DOI  PMID]

Cagnoli C, Brussino A, Sbaiz L, Di Gregorio E, Atzori C, Caroppo P, Orsi L, Migone N, Buffa C, Imperiale D, Brusco A. (2008) A previously undiagnosed case of Gerstmann-Straussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia. Movement disorders : official journal of the Movement Disorder Society 23(10) 1468-71 [DOI  PMID]

Cagnoli C, Brussino A, Di Gregorio E, Caroppo P, Stola S, Dragone E, Ferrone M, Padovan S, Migone N, Orsi L, Brusco A. (2008) Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy. Journal of neurology 255(7) 1079-80 [DOI  PMID]

Porcedda P, Turinetto V, Brusco A, Cavalieri S, Lantelme E, Orlando L, Ricardi U, Amoroso A, Gregori D, Giachino C. (2008) A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. Cytometry. Part A : the journal of the International Society for Analytical Cytology 73(6) 508-16 [DOI  PMID]

Cavalieri S, Funaro A, Pappi P, Migone N, Gatti RA, Brusco A. (2008) Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20. Annals of human genetics 72(Pt 1) 10-8 [DOI  PMID]

Degan P, d'Ischia M, Pallardo FV, Zatterale A, Brusco A, Calzone R, Cavalieri S, Kavakli K, Lloret A, Manini P, Pisanti MA, Vuttariello E, Pagano G. (2007) Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress. Clinical biochemistry 40(9-10) 666-70 [DOI  PMID]

Tassone F, Adams J, Berry-Kravis EM, Cohen SS, Brusco A, Leehey MA, Li L, Hagerman RJ, Hagerman PJ. (2007) CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 144B(4) 566-9 [DOI  PMID]

Cagnoli C, Brussino A, Di Gregorio E, Brusco A, Stevanin G, Durr A, Brice A. (2007) The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients. Movement disorders : official journal of the Movement Disorder Society 22(5) 752-3 [DOI  PMID]

Cavalieri S, Funaro A, Porcedda P, Turinetto V, Migone N, Gatti RA, Brusco A. (2006) ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions. Human mutation 27(10) 1061 [DOI  PMID]

Frisaldi E, Conca R, Magistroni P, Fasano ME, Mazzola G, Patane F, Zingarelli E, Dall'omo AM, Brusco A, Amoroso A. (2006) Prognostic values of soluble CD30 and CD30 gene polymorphisms in heart transplantation. Transplantation 81(8) 1153-6 [DOI  PMID]

Brusco A, Michielotto C, Gatta V, Foresta C, Matullo G, Zeviani M, Ferrari G, Dragone E, Calabrese G, Rossato M, Stuppia L, Migone N. (2006) The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia. Journal of endocrinological investigation 29(1) 1-4 [PMID]

Cagnoli C, Stevanin G, Michielotto C, Gerbino Promis G, Brussino A, Pappi P, Durr A, Dragone E, Viemont M, Gellera C, Brice A, Migone N, Brusco A. (2006) Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay. The Journal of molecular diagnostics : JMD 8(1) 128-32 [DOI  PMID]

Saluto A, Brussino A, Tassone F, Arduino C, Cagnoli C, Pappi P, Hagerman P, Migone N, Brusco A. (2005) An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene. The Journal of molecular diagnostics : JMD 7(5) 605-12 [DOI  PMID]

Cagnoli C, Mariotti C, Taroni F, Seri M, Brussino A, Michielotto C, Grisoli M, Di Bella D, Migone N, Gellera C, Di Donato S, Brusco A. (2006) SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain : a journal of neurology 129(Pt 1) 235-42 [DOI  PMID]

Arduino C, Salacone P, Pasini B, Brusco A, Salmin P, Bacillo E, Robecchi A, Cestino L, Cirillo S, Regge D, Cappello N, Gaia E. (2005) Association of a new cationic trypsinogen gene mutation (V39A) with chronic pancreatitis in an Italian family. Gut 54(11) 1663-4 [DOI  PMID]

Giordana MT, Piccinini M, Palmucci L, Buccinna B, Ramondetti C, Brusco A, Mongini T, Vaula G, Rinaudo MT. (2005) Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy. Brain pathology (Zurich, Switzerland) 15(2) 116-23 [PMID]

Coutinho G, Xie J, Du L, Brusco A, Krainer AR, Gatti RA. (2005) Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a. Human mutation 25(2) 118-24 [DOI  PMID]

Brussino A, Gellera C, Saluto A, Mariotti C, Arduino C, Castellotti B, Camerlingo M, de Angelis V, Orsi L, Tosca P, Migone N, Taroni F, Brusco A. (2005) FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia. Neurology 64(1) 145-7 [DOI  PMID]

Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F. (2004) Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Archives of neurology 61(5) 727-33 [DOI  PMID]

Cagnoli C, Michielotto C, Matsuura T, Ashizawa T, Margolis RL, Holmes SE, Gellera C, Migone N, Brusco A. (2004) Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. The Journal of molecular diagnostics : JMD 6(2) 96-100 [DOI  PMID]

Saviozzi S, Saluto A, Piane M, Prudente S, Migone N, DeMarchi M, Brusco A, Chessa L. (2003) Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia. Human mutation 21(4) 450 [DOI  PMID]

Gaia E, Salacone P, Gallo M, Promis GG, Brusco A, Bancone C, Carlo A. (2002) Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients. Digestive diseases and sciences 47(11) 2416-21 [PMID]

Brusco A, Cagnoli C, Franco A, Dragone E, Nardacchione A, Grosso E, Mortara P, Mutani R, Migone N, Orsi L. (2002) Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. Journal of neurology 249(7) 923-9 [DOI  PMID]

Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frasca G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M. (2002) COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney international 61(6) 1947-56 [DOI  PMID]

Saviozzi S, Saluto A, Taylor AM, Last JI, Trebini F, Paradiso MC, Grosso E, Funaro A, Ponzio G, Migone N, Brusco A. (2002) A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA. Journal of medical genetics 39(1) 57-61 [PMID]

Mongini T, Doriguzzi C, Arduino C, Brusco A, Bortolotto S, Mutani R, Palmucci L. (2001) Myopathy in a patient with chromosome 22q11 deletion. Neuropediatrics 32(2) 107-9 [DOI  PMID]

Longa L, Saluto A, Brusco A, Polidoro S, Padovan S, Allavena A, Carbonara C, Grosso E, Migone N. (2001) TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene. Human genetics 108(2) 156-66 [PMID]

DeFranco S, Bonissoni S, Cerutti F, Bona G, Bottarel F, Cadario F, Brusco A, Loffredo G, Rabbone I, Corrias A, Pignata C, Ramenghi U, Dianzani U. (2001) Defective function of Fas in patients with type 1 diabetes associated with other autoimmune diseases. Diabetes 50(3) 483-8 [PMID]

Ramenghi U, Campagnoli MF, Garelli E, Carando A, Brusco A, Bagnara GP, Strippoli P, Izzi GC, Brandalise S, Riccardi R, Dianzani I. (2000) Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. Blood cells, molecules & diseases 26(5) 417-22 [DOI  PMID]

Pignata C, Alessio M, Ramenghi U, Bonissoni S, Difranco D, Brusco A, Matrecano E, Franzese A, Dianzani I, Dianzani U. (2000) Clustering of distinct autoimmune diseases associated with functional abnormalities of T cell survival in children. Clinical and experimental immunology 121(1) 53-8 [PMID]

Arduino C, Gallo M, Brusco A, Garnerone S, Piana MR, Di Maggio S, Gerbino Promis G, Ferrone M, Angeli A, Gaia E. (1999) Polyvariant mutant CFTR genes in patients with chronic pancreatitis. Clinical genetics 56(5) 400-4 [PMID]

Willig TN, Draptchinskaia N, Dianzani I, Ball S, Niemeyer C, Ramenghi U, Orfali K, Gustavsson P, Garelli E, Brusco A, Tiemann C, Perignon JL, Bouchier C, Cicchiello L, Dahl N, Mohandas N, Tchernia G. (1999) Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. Blood 94(12) 4294-306 [PMID]

Nardacchione A, Orsi L, Brusco A, Franco A, Grosso E, Dragone E, Mortara P, Schiffer D, De Marchi M. (1999) Definition of the smallest pathological CAG expansion in SCA7. Clinical genetics 56(3) 232-4 [PMID]

Brusco A, Saviozzi S, Cinque F, Bottaro A, DeMarchi M. (1999) A recurrent breakpoint in the most common deletion of the Ig heavy chain locus (del A1-GP-G2-G4-E). Journal of immunology (Baltimore, Md. : 1950) 163(8) 4392-8 [PMID]

Brusco A, Saviozzi S, Cinque F, DeMarchi M, Boccazzi C, de Lange G, van Leeuwen AM, Carbonara AO. (1998) Molecular characterization of immunoglobulin G4 gene isoallotypes. European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics 25(5) 349-55 [PMID]

Dianzani I, de Sanctis L, Smooker PM, Gough TJ, Alliaudi C, Brusco A, Spada M, Blau N, Dobos M, Zhang HP, Yang N, Ponzone A, Armarego WL, Cotton RG. (1998) Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. Human mutation 12(4) 267-73 [DOI  PMID]

Arduino C, Ferrone M, Brusco A, Garnerone S, Fontana D, Rolle L, Carbonara AO. (1998) Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene. Clinical genetics 53(3) 202-4 [PMID]

Longa L, Scolari F, Brusco A, Carbonara C, Polidoro S, Valzorio B, Riegler P, Migone N, Maiorca R. (1997) A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 12(9) 1900-7 [PMID]

Brusco A, Cinque F, Saviozzi S, Boccazzi C, DeMarchi M, Carbonara AO. (1997) The G4 gene is duplicated in 44% of human immunoglobulin heavy chain constant region haplotypes. Human genetics 100(1) 84-9 [PMID]

Brusco A, Saavedra JP, Garcia G, Tagliaferro P, Evangelista de Duffard AM, Duffard R. (1997) 2,4-dichlorophenoxyacetic acid through lactation induces astrogliosis in rat brain. Molecular and chemical neuropathology / sponsored by the International Society for Neurochemistry and the World Federation of Neurology and research groups on neurochemistry and cerebrospinal fluid 30(3) 175-85 [PMID]

Longa L, Brusco A, Carbonara C, Polidoro S, Scolari F, Valzorio B, Riegler P, Tardanico R, Migone N. (1997) A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease. Contributions to nephrology 122 91-5 [PMID]

Engstrom PE, Norhagen G, Osipova L, Helal A, Wiebe V, Brusco A, Carbonara AO, Lefranc G, Lefranc MP. (1996) Salivary IgG subclasses in individuals with and without homozygous IGHG gene deletions. Immunology 89(2) 178-82 [PMID]

Carbonara A, Brusco A, Carbonara C. (1996) [Molecular genetics of X-linked primary immunodeficiencies: advances in diagnosis and prevention]. Annali italiani di medicina interna : organo ufficiale della Societa italiana di medicina interna 11(3) 180-6 [PMID]

Brusco A, Cariota U, Bottaro A, Boccazzi C, Plebani A, Ugazio AG, Galanello R, Guerra MG, Carbonara AO. (1995) Variability of the immunoglobulin heavy chain constant region locus: a population study. Human genetics 95(3) 319-26 [PMID]

Brusco A, Boccazzi C, Plebani A, DeLange GG, Depelchin S, Carbonara AO. (1995) Serum immunoglobulin levels in heterozygous subjects with immunoglobulin heavy chain constant region gene deletions. International journal of clinical & laboratory research 25(3) 165-8 [PMID]

Brusco A, de Lange GG, Boccazzi C, Carbonara AO. (1995) Molecular characterization of Gm(n+) and G2m(n-) allotypes. Immunogenetics 42(5) 414-7 [PMID]

Brusco A, Cariota U, Bottaro A, Boccazzi C, Plebani A, Ugazio AG, Galanello R, van Leeuwen AM, DeLange GG, Depelchin S, et al.. (1994) Structural and immunologic analysis of gene triplications in the Ig heavy chain constant region locus. Journal of immunology (Baltimore, Md. : 1950) 152(1) 129-35 [PMID]

Bottaro A, Gallina R, Brusco A, Cariota U, Boccazzi C, Barilaro MR, Plebani A, Ugazio AG, van Leeuwen AM, DeLange GG, et al.. (1993) Familial clustering of IGHC deletions and duplications: functional and molecular analysis. Immunogenetics 37(5) 356-63 [PMID]

Cariota U, Brusco A, Boccazzi C, Gallina R, Bottaro A, Galanello R, Melis MA, Cao A, Plebani A, Albertini A, et al.. (1993) Rearrangement of immunoglobin heavy chain constant region in Italian population. The Year in immunology 7 227-30 [PMID]

Brusco A, Cariota U, Bottaro A, Boccazzi C, Delange G, Van Leewen AM, Galanello R, Plebani A, Ugazio AU, Guerra MG, et al.. (1993) Deletions, duplications and triplications of the IGHC region in different Italian populations. Immunodeficiency 4(1-4) 243-4 [PMID]

Rabbani H, Bottaro A, Carbonara AO, Brusco A, Cariota U, Olsson PG, Smith CI, Hammarstrom L. (1993) The influence of gene duplications in the human immunoglobulin heavy chain constant locus on serum levels of immunoglobulin. Immunodeficiency 4(1-4) 237-41 [PMID]

Mandrile G, Di Gregorio E, Goel H, Giachino D, De Mercanti S, Iudicello M, Rolando M, Losa S, De Marchi M, Brusco A. (2015) Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans. Cerebellum (London, England) [DOI  PMID]