Sfoglia per Autore
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy
2009-01-01 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
The Tuberous Sclerosis Complex
2008-01-01 Sergiusz Józ´wiak; Nicola Migone; Martino Ruggieri
A previously undiagnosed case of GERSTMANN-STRÄUSSLER-SCHEINKER disease revealed by PRNP gene analysis in patients with adult-onset ataxia
2008-01-01 Cagnoli C; Brussino A; Sbaiz L; Di Gregorio E; Atzori C; Caroppo P; Orsi L; Migone N; Buffa C; Imperiale D; Brusco A
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy
2008-01-01 CAGNOLI C; BRUSSINO A; DI GREGORIO E; CAROPPO P; STOLA S; DRAGONE E; FERRONE M; PADOVAN S; MIGONE N; ORSI L; BRUSCO A
Large Genomic Mutations within the ATM Gene Detected by MLPA, Including a Duplication of 41 kb from Exon 4 to 20
2008-01-01 CAVALIERI S; FUNARO A; PAPPI P; MIGONE N; GATTI RA; BRUSCO A
Intractable epilepsy in hemimegalencephaly and tuberous sclerosis complex
2007-01-01 GUERRA MP; CAVALLERI F; MIGONE N; LUGLI L; DELALANDE O; CAVAZZUTI GB; FERRARI F
Mutation analysis of the MSH6 gene in 52 MLH1/MSH2-negative, HNPCC suspect Italian patients
2006-01-01 P. Pazienza*; M. Barberis*; I. Borelli; S. Regazzoni; D. Giachino; G. Casalis Cavalchini; A. Allavena; M. Micheletti; A. Arrigoni; M. Schena; E. Grosso; T. Venesio; E. David; B. Pasini; N. Migone; M. De Marchi
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay
2006-01-01 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
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2
2006-01-01 C. CAGNOLI; C. MARIOTTI; F. TARONI; M. SERI; A. BRUSSINO; C. MICHIELOTTO; M. GRISOLI; D. DI BELLA; N. MIGONE; C. GELLERA; S. DIDONATO; A. BRUSCO
The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia
2006-01-01 BRUSCO A; MICHIELOTTO C; GATTA V; FORESTA C; MATULLO G; ZEVIANI M; FERRARI G; DRAGONE E; CALABRESE G; ROSSATO M; STUPPIA L; MIGONE N
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions
2006-01-01 Cavalieri, Simona; Funaro, Ada; Porcedda, Paola; Turinetto, Valentina; Migone, Nicola; Gatti, Richard; Brusco, Alfredo
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment
2006-01-01 JANSSENS K; VANHOENACKER F; BONDUELLE M; VERBRUGGEN L; VAN MALDERGEM L; RALSTON S; GUAÑABENS N; MIGONE N; WIENTROUB S; DIVIZIA MT; BERGMANN C; BENNETT C; SIMSEK S; MELANÇON S; CUNDY T; VAN HUL W
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene
2005-01-01 Saluto, Alessandro; Brussino, Alessandro; Tassone, Flora; Arduino, Carlo; Cagnoli, Claudia; Pappi, Patrizia; Hagerman, P; Migone, Nicola; Brusco, Alfredo
Juvenile vertebrobasilar ischaemic stroke in a patient with Camurati-Engelmann disease
2005-01-01 CERRATO P; BAIMA C; BERGUI M; GRASSO M; LENTINI A; AZZARO C; BOSCO G; IMPERIALE D; MIGONE N; ALLAVENA A; BERGAMASCO B
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia
2005-01-01 BRUSSINO A; GELLERA C; SALUTO A; MARIOTTI C; ARDUINO C; CASTELLOTTI B; CAMERLINGO M; DE ANGELIS V; ORSI L; TOSCA P; N. MIGONE; TARONI F; BRUSCO A
Tuberous sclerosis
2004-01-01 Migone N; Longa L; Allavena A; Barberis M; Padovan S; Borelli I; Ruggieri M; Grosso E
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families
2004-01-01 BRUSCO A; GELLERA C; CAGNOLI C; SALUTO A; CASTUCCI A; MICHIELOTTO C; FETONI V; MARIOTTI C; MIGONE N; DI DONATO S; TARONI F
Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay
2004-01-01 Cagnoli, Claudia; Michielotto, Chiara; Matsuura, T; Ashizawa, T; Margolis, Rl; Holmes, Se; Gellera, C; Migone, Nicola; Brusco, Alfredo
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.
2003-01-01 Saviozzi, Silvia; Saluto, Alessandro; Piane, Maria; Prudente, Sabrina; Migone, Nicola; DE MARCHI, Mario; Brusco, Alfredo; Chessa, Luciana
The endophilin-CIN85-Cbl complex mediates ligand-dependent downregulation of c-Met.
2002-01-01 PETRELLI A; GILESTRO GF; LANZARDO S; P. COMOGLIO; MIGONE N; GIORDANO S
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy | 2009 | 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 | |
| The Tuberous Sclerosis Complex | 2008 | Sergiusz Józ´wiak; Nicola Migone; Martino Ruggieri | |
| A previously undiagnosed case of GERSTMANN-STRÄUSSLER-SCHEINKER disease revealed by PRNP gene analysis in patients with adult-onset ataxia | 2008 | Cagnoli C; Brussino A; Sbaiz L; Di Gregorio E; Atzori C; Caroppo P; Orsi L; Migone N; Buffa C; Imperiale D; Brusco A | |
| Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy | 2008 | CAGNOLI C; BRUSSINO A; DI GREGORIO E; CAROPPO P; STOLA S; DRAGONE E; FERRONE M; PADOVAN S; MIGONE N; ORSI L; BRUSCO A | |
| Large Genomic Mutations within the ATM Gene Detected by MLPA, Including a Duplication of 41 kb from Exon 4 to 20 | 2008 | CAVALIERI S; FUNARO A; PAPPI P; MIGONE N; GATTI RA; BRUSCO A | |
| Intractable epilepsy in hemimegalencephaly and tuberous sclerosis complex | 2007 | GUERRA MP; CAVALLERI F; MIGONE N; LUGLI L; DELALANDE O; CAVAZZUTI GB; FERRARI F | |
| Mutation analysis of the MSH6 gene in 52 MLH1/MSH2-negative, HNPCC suspect Italian patients | 2006 | P. Pazienza*; M. Barberis*; I. Borelli; S. Regazzoni; D. Giachino; G. Casalis Cavalchini; A. Allavena; M. Micheletti; A. Arrigoni; M. Schena; E. Grosso; T. Venesio; E. David; B. Pasini; N. Migone; M. De Marchi | |
| Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay | 2006 | 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 | |
| SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2 | 2006 | C. CAGNOLI; C. MARIOTTI; F. TARONI; M. SERI; A. BRUSSINO; C. MICHIELOTTO; M. GRISOLI; D. DI BELLA; N. MIGONE; C. GELLERA; S. DIDONATO; A. BRUSCO | |
| The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia | 2006 | BRUSCO A; MICHIELOTTO C; GATTA V; FORESTA C; MATULLO G; ZEVIANI M; FERRARI G; DRAGONE E; CALABRESE G; ROSSATO M; STUPPIA L; MIGONE N | |
| ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions | 2006 | Cavalieri, Simona; Funaro, Ada; Porcedda, Paola; Turinetto, Valentina; Migone, Nicola; Gatti, Richard; Brusco, Alfredo | |
| Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment | 2006 | JANSSENS K; VANHOENACKER F; BONDUELLE M; VERBRUGGEN L; VAN MALDERGEM L; RALSTON S; GUAÑABENS N; MIGONE N; WIENTROUB S; DIVIZIA MT; BERGMANN C; BENNETT C; SIMSEK S; MELANÇON S; CUNDY T; VAN HUL W | |
| An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene | 2005 | Saluto, Alessandro; Brussino, Alessandro; Tassone, Flora; Arduino, Carlo; Cagnoli, Claudia; Pappi, Patrizia; Hagerman, P; Migone, Nicola; Brusco, Alfredo | |
| Juvenile vertebrobasilar ischaemic stroke in a patient with Camurati-Engelmann disease | 2005 | CERRATO P; BAIMA C; BERGUI M; GRASSO M; LENTINI A; AZZARO C; BOSCO G; IMPERIALE D; MIGONE N; ALLAVENA A; BERGAMASCO B | |
| FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia | 2005 | BRUSSINO A; GELLERA C; SALUTO A; MARIOTTI C; ARDUINO C; CASTELLOTTI B; CAMERLINGO M; DE ANGELIS V; ORSI L; TOSCA P; N. MIGONE; TARONI F; BRUSCO A | |
| Tuberous sclerosis | 2004 | Migone N; Longa L; Allavena A; Barberis M; Padovan S; Borelli I; Ruggieri M; Grosso E | |
| Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families | 2004 | BRUSCO A; GELLERA C; CAGNOLI C; SALUTO A; CASTUCCI A; MICHIELOTTO C; FETONI V; MARIOTTI C; MIGONE N; DI DONATO S; TARONI F | |
| Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay | 2004 | Cagnoli, Claudia; Michielotto, Chiara; Matsuura, T; Ashizawa, T; Margolis, Rl; Holmes, Se; Gellera, C; Migone, Nicola; Brusco, Alfredo | |
| Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia. | 2003 | Saviozzi, Silvia; Saluto, Alessandro; Piane, Maria; Prudente, Sabrina; Migone, Nicola; DE MARCHI, Mario; Brusco, Alfredo; Chessa, Luciana | |
| The endophilin-CIN85-Cbl complex mediates ligand-dependent downregulation of c-Met. | 2002 | PETRELLI A; GILESTRO GF; LANZARDO S; P. COMOGLIO; MIGONE N; GIORDANO S |
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