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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 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/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 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-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 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.
Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase (CCS) gene locus in two Italian pedigrees
2000 Orlacchio, Antonio; Kawarai, T; Massaro, Am; St George Hyslop, Ph; Sorbi, S.
Acid glycohydrolase activities in lymphomonocyte plasma- membranes of patients with multiple sclerosis
1996 Martino, Sabata; Orlacchio, Antonio; Sarchielli, P; Emiliani, C; Gallai, V.
ALS phenotypes with mutations in SPG11
2009 Orlacchio, A; Babalini, C; Patrono, C; Montieri, P; Varlese, Ml; Borreca, A; Moschella, V; Mercuri, Nb; Bernardi, G; Kawarai, T
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 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/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 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-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 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. | |
| Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase (CCS) gene locus in two Italian pedigrees | 2000 | Orlacchio, Antonio; Kawarai, T; Massaro, Am; St George Hyslop, Ph; Sorbi, S. | |
| Acid glycohydrolase activities in lymphomonocyte plasma- membranes of patients with multiple sclerosis | 1996 | Martino, Sabata; Orlacchio, Antonio; Sarchielli, P; Emiliani, C; Gallai, V. | |
| ALS phenotypes with mutations in SPG11 | 2009 | Orlacchio, A; Babalini, C; Patrono, C; Montieri, P; Varlese, Ml; Borreca, A; Moschella, V; Mercuri, Nb; Bernardi, G; Kawarai, T |
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Opzioni
Scopri
Tipologia
- 1 Contributo su Rivista 127
- 1 Contributo su Rivista::1.5 Abst... 127
Data di pubblicazione
- 2020 - 2022 5
- 2010 - 2019 28
- 2000 - 2009 75
- 1995 - 1999 19
Rivista
- JOURNAL OF NEUROLOGY 31
- NEUROLOGICAL SCIENCES 15
- MOVEMENT DISORDERS 12
- NEUROBIOLOGY OF AGING 11
- ALZHEIMER'S & DEMENTIA 10
- JOURNAL OF THE NEUROLOGICAL SCIENCES 6
- ITALIAN JOURNAL OF BIOCHEMISTRY 5
- MOVEMENT DISORDERS 5
- NEUROLOGICAL SCIENCES 5
- ALZHEIMER'S & DEMENTIA 3
Keyword
- amyloid-beta 1
- monocytes 1
- Saffron 1
Lingua
- eng 123
- ita 3
Accesso al fulltext
- no fulltext 127