ORLACCHIO, Antonio
ORLACCHIO, Antonio
DIPARTIMENTO DI MEDICINA E CHIRURGIA
1H-MRS in patients with multiple sclerosis undergoing treatment with interferon beta-1a: results of a preliminary study
1998 Sarchielli, Paola; Presciutti, Otello; Tarducci, Roberto; Gobbi, Gianni; Alberti, Andrea; Pelliccioli Gian, Piero; Orlacchio, Antonio; Gallai, Virgilio
A clinico-genetic study in a large cohort of patients with hereditary spastic paraplegia type 4 (SPG4)
2016 Pedace, L; Mearini, M; Casella, A; Montecchiani, C; Gaudiello, F; Miele, M; Massa, R; Caltagirone, C; Munhoz, R; Pedroso, Jl; Barsottini, Ogp; Kawarai, T; Orlacchio, Antonio
A clinico-genetical study in a large cohort of patients with spastic paraplegia type 4 (SPG4)
2016 Orlacchio, A; Mearini, M; Pedace, L; Casella, A; Montecchiani, C; Gaudiello, F; Miele, M; Massa, R; Caltagirone, C; Munhoz, Rp; Pedroso, Jl; Barsottini, Ogp; Kawarai, T
A homozygous loss-of-function mutation in DNAJA3 causes hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V)
2016 Kawarai, T; Miyamoto, R; Kuroda, Y; Omoto, M; Ueyama, M; Murakami, N; Furukawa, T; Oki, R; Mori, A; Osaki, Y; Banzrai, C; Nodera, H; Orlacchio, A; Hashiguchi, A; Higuchi, Y; Takashima, H; Kanda, T; Izumi, Y; Nagai, Y; Mitsui, T; Kaji, R
A homozygous loss-of-function mutation in DNAJA3 causes hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V)
2016 Kawarai, T; Miyamoto, R; Kuroda, Y; Omoto, M; Ueyama, M; Murakami, N; Furukawa, T; Oki, R; Mori, A; Osaki, Y; Banzrai, C; Nodera, H; Orlacchio, A; Hashiguchi, A; Higuchi, Y; Takashima, H; Kanda, T; Izumi, Y; Nagai, Y; Mitsui, T; Kaji, R
A homozygous loss-of-function mutation in DNAJA3 causes HMSN type V
2016 Kawarai, T; Miyamoto, R; Yukiko, K; Omoto, M; Ueyama, M; Murakami, N; Furukawa, T; Osaki, Y; Banzrai, C; Nodera, H; Orlacchio, A; Hashiguchi, A; Higuchi, Y; Takashima, H; Kanda, T; Izumi, Y; Nagai, Y; Mitsui, T; Kaji, R
A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability
2016 Kawarai, Toshitaka; Tajima, Atsushi; Kuroda, Yukiko; Saji, Naoki; Orlacchio, Antonio; Terasawa, Hideo; Shimizu, Hirotaka; Kita, Yasushi; Izumi, Yuishin; Mitsui, Takao; Imoto, Issei; Kaji, Ryuji
A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis
2013 Inui, Toshio; Kawarai, Toshitaka; Fujita, Koji; Kawamura, Kazuyuki; Mitsui, Takao; Orlacchio, Antonio; Kamada, Masaki; Abe, Takashi; Izumi, Yuishin; Kaji, Ryuji
A new locus for the Silver syndrome type of hereditary spastic paraplegia
2007 Orlacchio, Antonio; Patrono, C; Gaudiello, F; Borreca, A; Moschella, V; Orlacchio, A; Floris, R; Bernardi, G; Kawarai, T.
A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts
2004 Orlacchio, Antonio; Gaudiello, Fabrizio; Totaro, Antonio; Floris, Roberto; St George-Hyslop Peter, H; Bernardi, Giorgio; Kawarai, Toshitaka
A new SPG4/SPAST mutation in an Italian family with hereditary spastic paraplegia and Alzheimer's disease
2018 Orlacchio, A; Montecchiani, C; Rumore, R; Gaudiello, F; Miele, M; Caltagirone, C; Kawarai, T
A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment
2020 Kawarai, Toshitaka; Yamazaki, Hiroki; Yamakami, Kei; Tsukamoto-Miyashiro, Ai; Kodama, Mizuki; Rumore, Roberto; Caltagirone, Carlo; Nishino, Ichizo; Orlacchio, Antonio
A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course
2018 Kuwabara, Kozue; Kawarai, Toshitaka; Ishida, Yasushi; Miyamoto, Ryosuke; Oki, Ryosuke; Orlacchio, Antonio; Nomura, Yoshiko; Fukuda, Mitsumasa; Ishii, Eiichi; Shintaku, Haruo; Kaji, Ryuji
A novel mutation in Spastin gene demonstrated Spastic Paraplegia and thin corpus callosum
2002 Orlacchio, Antonio; Kawarai, T; Meschino, W; Totaro, A; St George Hyslop, Ph; Errico, A; Rugarli, Ei; Bernardi, G.
A novel mutation in the spastin gene in an Italian family with Hereditary Spastic Paraplegia
2003 Orlacchio, Antonio; Kawarai, T; Merlo, S; Totaro, A; St George Hyslop, Ph; Bernardi, G.
A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia
2007 Matsui, Masaru; Kawarai, Toshitaka; Hase, Yoshiki; Tomimoto, Hidekazu; Iseki, Kazumi; Rogaeva, Ekaterina; Orlacchio, Antonio; Bernardi, Giorgio; St George-Hyslop Peter, H; Takahashi, Ryosuke; Matsui, Makoto
a-D-Mannosidases in fibroblasts from patients with Alzheimer’s disease
1999 Orlacchio, Antonio; Sorbi, S; Latorraca, S; Vinci, E; Parnetti, Lucilla; Gallai, V; St George Hyslop, Ph; Emiliani, C.
a-D-Mannosidases in patients with familial Alzheimer’s disease
2000 Orlacchio, Antonio; Latorraca, S; Parnetti, L; Gallai, V; St George Hyslop, Ph; Sorbi, S; Orlacchio, A; Emiliani, C.
Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE
1998 Song, You-Qiang; Rogaeva, Ekaterina; Premkumar, Smita; Brindle, Nicholas; Kawarai, Toshitaka; Orlacchio, Antonio; Yu, Gang; Levesque, Georges; Nishimura, Masaki; Ikeda, Masaki; Pei, York; O'Toole, Colleen; Duara, Ranjan; Barker, William; Sorbi, Sandro; Freedman, Morris; Farrer, Lindsay; St George-Hyslop, Peter
Absence of association between APOA1 polymorphism and Alzheimer’s disease
2008 Varlese, Ml; Babalini, C; Patrono, C; Borreca, A; Montieri, P; Esposito, Z; Sancesario, G; Orlacchio, Antonio; Bernardi, G; Kawarai, T; Orlacchio, A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 1H-MRS in patients with multiple sclerosis undergoing treatment with interferon beta-1a: results of a preliminary study | 1998 | Sarchielli, Paola; Presciutti, Otello; Tarducci, Roberto; Gobbi, Gianni; Alberti, Andrea; Pelliccioli Gian, Piero; Orlacchio, Antonio; Gallai, Virgilio | |
| A clinico-genetic study in a large cohort of patients with hereditary spastic paraplegia type 4 (SPG4) | 2016 | Pedace, L; Mearini, M; Casella, A; Montecchiani, C; Gaudiello, F; Miele, M; Massa, R; Caltagirone, C; Munhoz, R; Pedroso, Jl; Barsottini, Ogp; Kawarai, T; Orlacchio, Antonio | |
| A clinico-genetical study in a large cohort of patients with spastic paraplegia type 4 (SPG4) | 2016 | Orlacchio, A; Mearini, M; Pedace, L; Casella, A; Montecchiani, C; Gaudiello, F; Miele, M; Massa, R; Caltagirone, C; Munhoz, Rp; Pedroso, Jl; Barsottini, Ogp; Kawarai, T | |
| A homozygous loss-of-function mutation in DNAJA3 causes hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V) | 2016 | Kawarai, T; Miyamoto, R; Kuroda, Y; Omoto, M; Ueyama, M; Murakami, N; Furukawa, T; Oki, R; Mori, A; Osaki, Y; Banzrai, C; Nodera, H; Orlacchio, A; Hashiguchi, A; Higuchi, Y; Takashima, H; Kanda, T; Izumi, Y; Nagai, Y; Mitsui, T; Kaji, R | |
| A homozygous loss-of-function mutation in DNAJA3 causes hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V) | 2016 | Kawarai, T; Miyamoto, R; Kuroda, Y; Omoto, M; Ueyama, M; Murakami, N; Furukawa, T; Oki, R; Mori, A; Osaki, Y; Banzrai, C; Nodera, H; Orlacchio, A; Hashiguchi, A; Higuchi, Y; Takashima, H; Kanda, T; Izumi, Y; Nagai, Y; Mitsui, T; Kaji, R | |
| A homozygous loss-of-function mutation in DNAJA3 causes HMSN type V | 2016 | Kawarai, T; Miyamoto, R; Yukiko, K; Omoto, M; Ueyama, M; Murakami, N; Furukawa, T; Osaki, Y; Banzrai, C; Nodera, H; Orlacchio, A; Hashiguchi, A; Higuchi, Y; Takashima, H; Kanda, T; Izumi, Y; Nagai, Y; Mitsui, T; Kaji, R | |
| A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability | 2016 | Kawarai, Toshitaka; Tajima, Atsushi; Kuroda, Yukiko; Saji, Naoki; Orlacchio, Antonio; Terasawa, Hideo; Shimizu, Hirotaka; Kita, Yasushi; Izumi, Yuishin; Mitsui, Takao; Imoto, Issei; Kaji, Ryuji | |
| A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis | 2013 | Inui, Toshio; Kawarai, Toshitaka; Fujita, Koji; Kawamura, Kazuyuki; Mitsui, Takao; Orlacchio, Antonio; Kamada, Masaki; Abe, Takashi; Izumi, Yuishin; Kaji, Ryuji | |
| A new locus for the Silver syndrome type of hereditary spastic paraplegia | 2007 | Orlacchio, Antonio; Patrono, C; Gaudiello, F; Borreca, A; Moschella, V; Orlacchio, A; Floris, R; Bernardi, G; Kawarai, T. | |
| A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts | 2004 | Orlacchio, Antonio; Gaudiello, Fabrizio; Totaro, Antonio; Floris, Roberto; St George-Hyslop Peter, H; Bernardi, Giorgio; Kawarai, Toshitaka | |
| A new SPG4/SPAST mutation in an Italian family with hereditary spastic paraplegia and Alzheimer's disease | 2018 | Orlacchio, A; Montecchiani, C; Rumore, R; Gaudiello, F; Miele, M; Caltagirone, C; Kawarai, T | |
| A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment | 2020 | Kawarai, Toshitaka; Yamazaki, Hiroki; Yamakami, Kei; Tsukamoto-Miyashiro, Ai; Kodama, Mizuki; Rumore, Roberto; Caltagirone, Carlo; Nishino, Ichizo; Orlacchio, Antonio | |
| A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course | 2018 | Kuwabara, Kozue; Kawarai, Toshitaka; Ishida, Yasushi; Miyamoto, Ryosuke; Oki, Ryosuke; Orlacchio, Antonio; Nomura, Yoshiko; Fukuda, Mitsumasa; Ishii, Eiichi; Shintaku, Haruo; Kaji, Ryuji | |
| A novel mutation in Spastin gene demonstrated Spastic Paraplegia and thin corpus callosum | 2002 | Orlacchio, Antonio; Kawarai, T; Meschino, W; Totaro, A; St George Hyslop, Ph; Errico, A; Rugarli, Ei; Bernardi, G. | |
| A novel mutation in the spastin gene in an Italian family with Hereditary Spastic Paraplegia | 2003 | Orlacchio, Antonio; Kawarai, T; Merlo, S; Totaro, A; St George Hyslop, Ph; Bernardi, G. | |
| A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia | 2007 | Matsui, Masaru; Kawarai, Toshitaka; Hase, Yoshiki; Tomimoto, Hidekazu; Iseki, Kazumi; Rogaeva, Ekaterina; Orlacchio, Antonio; Bernardi, Giorgio; St George-Hyslop Peter, H; Takahashi, Ryosuke; Matsui, Makoto | |
| a-D-Mannosidases in fibroblasts from patients with Alzheimer’s disease | 1999 | Orlacchio, Antonio; Sorbi, S; Latorraca, S; Vinci, E; Parnetti, Lucilla; Gallai, V; St George Hyslop, Ph; Emiliani, C. | |
| a-D-Mannosidases in patients with familial Alzheimer’s disease | 2000 | Orlacchio, Antonio; Latorraca, S; Parnetti, L; Gallai, V; St George Hyslop, Ph; Sorbi, S; Orlacchio, A; Emiliani, C. | |
| Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE | 1998 | Song, You-Qiang; Rogaeva, Ekaterina; Premkumar, Smita; Brindle, Nicholas; Kawarai, Toshitaka; Orlacchio, Antonio; Yu, Gang; Levesque, Georges; Nishimura, Masaki; Ikeda, Masaki; Pei, York; O'Toole, Colleen; Duara, Ranjan; Barker, William; Sorbi, Sandro; Freedman, Morris; Farrer, Lindsay; St George-Hyslop, Peter | |
| Absence of association between APOA1 polymorphism and Alzheimer’s disease | 2008 | Varlese, Ml; Babalini, C; Patrono, C; Borreca, A; Montieri, P; Esposito, Z; Sancesario, G; Orlacchio, Antonio; Bernardi, G; Kawarai, T; Orlacchio, A. |