Search Results - "Gaudiello, Fabrizio" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10: Table 1

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10: Table 1

by Carosi, Laura, Lo Giudice, Temistocle, Di Lullo, Martina, Lombardi, Federica, Babalini, Carla, Gaudiello, Fabrizio, Marfia, Girolama Alessandra, Massa, Roberto, Kawarai, Toshitaka, Orlacchio, Antonio
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2015)

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Journal Article

New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1

New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1

by Orlacchio, Antonio, Kawarai, Toshitaka, Gaudiello, Fabrizio, St George-Hyslop, Peter H., Floris, Roberto, Bernardi, Giorgio
Published in Annals of neurology (01.09.2005)

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Journal Article

Clinical and genetic study of a large SPG4 Italian family

Clinical and genetic study of a large SPG4 Italian family

by Orlacchio, Antonio, Kawarai, Toshitaka, Gaudiello, Fabrizio, Totaro, Antonio, Schillaci, Orazio, Stefani, Alessandro, Floris, Roberto, St. George-Hyslop, Peter H., Sorbi, Sandro, Bernardi, Giorgio
Published in Movement disorders (01.08.2005)

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Journal Article

Mild cognitive impairment in novel SPG4/SPAST mutation‐related sporadic late onset hereditary spastic paraplegia: case series

Mild cognitive impairment in novel SPG4/SPAST mutation‐related sporadic late onset hereditary spastic paraplegia: case series

by Meyyazhagan, Arun, Rumore, Roberto, Gaudiello, Fabrizio, Miele, Marialuisa, Kawarai, Toshitaka, Orlacchio, Antonio
Published in Alzheimer's & dementia (01.12.2023)

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Journal Article

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability

by Kawarai, Toshitaka, Montecchiani, Celeste, Miyamoto, Ryosuke, Gaudiello, Fabrizio, Caltagirone, Carlo, Izumi, Yuishin, Kaji, Ryuji, Orlacchio, Antonio
Published in Journal of the neurological sciences (15.09.2017)

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Journal Article

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease

by Montecchiani, Celeste, Pedace, Lucia, Lo Giudice, Temistocle, Casella, Antonella, Mearini, Marzia, Gaudiello, Fabrizio, Pedroso, José L, Terracciano, Chiara, Caltagirone, Carlo, Massa, Roberto, St George-Hyslop, Peter H, Barsottini, Orlando G P, Kawarai, Toshitaka, Orlacchio, Antonio
Published in Brain (London, England : 1878) (01.01.2016)

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Journal Article

Clinico‐genetic study of two Japanese pedigrees with hereditary spastic paraparesis and Alzheimer's disease

Clinico‐genetic study of two Japanese pedigrees with hereditary spastic paraparesis and Alzheimer's disease

by Rumore, Roberto, Montecchiani, Celeste, Gaudiello, Fabrizio, Miele, Marialuisa, Kawarai, Toshitaka, Orlacchio, Antonio
Published in Alzheimer's & dementia (01.12.2020)

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Journal Article

Clinico‐genetic study of two Japanese pedigrees with hereditary spastic paraparesis and Alzheimer's disease: Genetics/molecular genetics

Clinico‐genetic study of two Japanese pedigrees with hereditary spastic paraparesis and Alzheimer's disease: Genetics/molecular genetics

by Rumore, Roberto, Montecchiani, Celeste, Gaudiello, Fabrizio, Miele, Marialuisa, Kawarai, Toshitaka, Orlacchio, Antonio
Published in Alzheimer's & dementia (01.12.2020)

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Journal Article

P3‐119: CLINICAL AND GENETIC STUDY OF AN ITALIAN FAMILY WITH COMPLICATED HEREDITARY SPASTIC PARAPLEGIA AND ALZHEIMER'S DISEASE

P3‐119: CLINICAL AND GENETIC STUDY OF AN ITALIAN FAMILY WITH COMPLICATED HEREDITARY SPASTIC PARAPLEGIA AND ALZHEIMER'S DISEASE

by Montecchiani, Celeste, Rumore, Roberto, Gaudiello, Fabrizio, Miele, Marialuisa, Caltagirone, Carlo, Kawarai, Toshitaka, Orlacchio, Antonio
Published in Alzheimer's & dementia (01.07.2018)

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Journal Article

HEREDITARY SPASTIC PARAPLEGIA AND ALZHEIMER'S DISEASE: CLINICAL AND GENETIC STUDY OF A BRAZILIAN FAMILY

HEREDITARY SPASTIC PARAPLEGIA AND ALZHEIMER'S DISEASE: CLINICAL AND GENETIC STUDY OF A BRAZILIAN FAMILY

by Rumore, Roberto, Montecchiani, Celeste, Gaudiello, Fabrizio, Miele, Marialuisa, Pedroso, José L., Barsottini, Orlando G.P., Caltagirone, Carlo, Kawarai, Toshitaka, Orlacchio, Antonio
Published in Alzheimer's & dementia (01.07.2019)

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Journal Article

P3‐145: HEREDITARY SPASTIC PARAPLEGIA AND ALZHEIMER'S DISEASE: CLINICAL AND GENETIC STUDY OF A BRAZILIAN FAMILY

P3‐145: HEREDITARY SPASTIC PARAPLEGIA AND ALZHEIMER'S DISEASE: CLINICAL AND GENETIC STUDY OF A BRAZILIAN FAMILY

by Rumore, Roberto, Montecchiani, Celeste, Gaudiello, Fabrizio, Miele, Marialuisa, Pedroso, José L., Barsottini, Orlando G.P., Caltagirone, Carlo, Kawarai, Toshitaka, Orlacchio, Antonio
Published in Alzheimer's & dementia (01.07.2019)

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Journal Article

CLINICAL AND GENETIC STUDY OF A JAPANESE FAMILY WITH COMPLICATED HEREDITARY SPASTIC PARAPLEGIA AND ALZHEIMER'S DISEASE

CLINICAL AND GENETIC STUDY OF A JAPANESE FAMILY WITH COMPLICATED HEREDITARY SPASTIC PARAPLEGIA AND ALZHEIMER'S DISEASE

by Montecchiani, Celeste, D'Onofrio, Laura, Mearini, Marzia, Gaudiello, Fabrizio, Miele, Marialuisa, Caltagirone, Carlo, Kawarai, Toshitaka, Orlacchio, Antonio
Published in Alzheimer's & dementia (01.07.2017)

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Journal Article

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

by Orlacchio, Antonio, Montieri, Pasqua, Babalini, Carla, Gaudiello, Fabrizio, Bernardi, Giorgio, Kawarai, Toshitaka
Published in Journal of neurology (01.07.2011)

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Journal Article

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10

by Carosi, Laura, Lo Giudice, Temistocle, Di Lullo, Martina, Lombardi, Federica, Babalini, Carla, Gaudiello, Fabrizio, Marfia, Girolama Alessandra, Massa, Roberto, Kawarai, Toshitaka, Orlacchio, Antonio
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2015)

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Journal Article

CLINICAL AND GENETIC STUDY OF AN ITALIAN FAMILY WITH COMPLICATED HEREDITARY SPASTIC PARAPLEGIA AND ALZHEIMER’S DISEASE

CLINICAL AND GENETIC STUDY OF AN ITALIAN FAMILY WITH COMPLICATED HEREDITARY SPASTIC PARAPLEGIA AND ALZHEIMER’S DISEASE

by Montecchiani, Celeste, Rumore, Roberto, Gaudiello, Fabrizio, Miele, Marialuisa, Caltagirone, Carlo, Kawarai, Toshitaka, Orlacchio, Antonio
Published in Alzheimer's & dementia (01.07.2018)

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Journal Article

Advances in neuroimaging of the visual pathways and their use in glaucoma

Advances in neuroimaging of the visual pathways and their use in glaucoma

by Garaci, Francesco Giuseppe, Cozzolino, Valeria, Nucci, Carlo, Gaudiello, Fabrizio, Ludovici, Andrea, Lupattelli, Tommaso, Floris, Roberto, Simonetti, Giovanni
Published in Progress in Brain Research (2008)

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Book Chapter Journal Article

Hemodynamic Modifications in Patients with Symptomatic Unilateral Stenosis of the Internal Carotid Artery: Evaluation with MR Imaging Perfusion Sequences

Hemodynamic Modifications in Patients with Symptomatic Unilateral Stenosis of the Internal Carotid Artery: Evaluation with MR Imaging Perfusion Sequences

by Bozzao, Alessandro, Floris, Roberto, Gaudiello, Fabrizio, Finocchi, Vanina, Fantozzi, Luigi Maria, Simonetti, Giovanni
Published in American journal of neuroradiology : AJNR (01.09.2002)

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Journal Article

Evaluation of anterior pituitary gland volume in childhood using three-dimensional MRI

Evaluation of anterior pituitary gland volume in childhood using three-dimensional MRI

by Marziali, Simone, Gaudiello, Fabrizio, Bozzao, Alessandro, Scirè, Giuseppe, Ferone, Ernesto, Colangelo, Vittorio, Simonetti, Alessandra, Boscherini, Brunetto, Floris, Roberto, Simonetti, Giovanni
Published in Pediatric radiology (01.07.2004)

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Journal Article

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

by Orlacchio, Antonio, Montieri, Pasqua, Babalini, Carla, Gaudiello, Fabrizio, Bernardi, Giorgio, Kawarai, Toshitaka
Published in Journal of neurology (01.07.2011)

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