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A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline. [electronic resource] by
- Castrioto, A
- Prontera, P
- Di Gregorio, E
- Rossi, V
- Parnetti, L
- Rossi, A
- Donti, E
- Brusco, A
- Calabresi, P
- Tambasco, N
Producer: 20120619
In:
European journal of neurology vol. 18
Availability: No items available.
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A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy. [electronic resource] by
- Brussino, A
- Vaula, G
- Cagnoli, C
- Mauro, A
- Pradotto, L
- Daniele, D
- Di Gregorio, E
- Barberis, M
- Arduino, C
- Squadrone, S
- Abete, M C
- Migone, N
- Calabrese, O
- Brusco, A
Producer: 20090217
In:
Journal of neurology, neurosurgery, and psychiatry vol. 80
Availability: No items available.
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5.
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Mutations in the lamin B1 gene are not present in multiple sclerosis. [electronic resource] by
- Brussino, A
- D'Alfonso, S
- Cagnoli, C
- Di Gregorio, E
- Barberis, M
- Padovan, S
- Vaula, G
- Pinessi, L
- Squadrone, S
- Abete, M C
- Collimedaglia, L
- Guerini, F R
- Migone, N
- Brusco, A
Producer: 20090702
In:
European journal of neurology vol. 16
Availability: No items available.
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6.
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A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. [electronic resource] by
- Brussino, A
- Vaula, G
- Cagnoli, C
- Panza, E
- Seri, M
- Di Gregorio, E
- Scappaticci, S
- Camanini, S
- Daniele, D
- Bradac, G B
- Pinessi, L
- Cavalieri, S
- Grosso, E
- Migone, N
- Brusco, A
Producer: 20100817
In:
European journal of neurology vol. 17
Availability: No items available.
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Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. [electronic resource] by
- Mancini, C
- Giorgio, E
- Rubegni, A
- Pradotto, L
- Bagnoli, S
- Rubino, E
- Prontera, P
- Cavalieri, S
- Di Gregorio, E
- Ferrero, M
- Pozzi, E
- Riberi, E
- Ferrero, P
- Nigro, P
- Mauro, A
- Zibetti, M
- Tessa, A
- Barghigiani, M
- Antenora, A
- Sirchia, F
- Piacentini, S
- Silvestri, G
- De Michele, G
- Filla, A
- Orsi, L
- Santorelli, F M
- Brusco, A
Producer: 20190603
In:
European journal of neurology vol. 26
Availability: No items available.
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8.
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Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes. [electronic resource] by
- Di Gregorio, E
- Riberi, E
- Belligni, E F
- Biamino, E
- Spielmann, M
- Ala, U
- Calcia, A
- Bagnasco, I
- Carli, D
- Gai, G
- Giordano, M
- Guala, A
- Keller, R
- Mandrile, G
- Arduino, C
- Maffè, A
- Naretto, V G
- Sirchia, F
- Sorasio, L
- Ungari, S
- Zonta, A
- Zacchetti, G
- Talarico, F
- Pappi, P
- Cavalieri, S
- Giorgio, E
- Mancini, C
- Ferrero, M
- Brussino, A
- Savin, E
- Gandione, M
- Pelle, A
- Giachino, D F
- De Marchi, M
- Restagno, G
- Provero, P
- Cirillo Silengo, M
- Grosso, E
- Buxbaum, J D
- Pasini, B
- De Rubeis, S
- Brusco, A
- Ferrero, G B
Producer: 20180516
In:
Clinical genetics vol. 92
Availability: No items available.
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