Autor: "Falzone, Yuri Matteo" - OpacWWW

Skocz do pozycji: 1 1.

Tytuł :: Concurrence of NMOSD and ALS in a patient with hexanucleotide repeat expansions of C9orf72.
Autorzy :: Falzone YM; a Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute , Vita-Salute San Raffaele University , Milan , Italy.
Radaelli M; a Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute , Vita-Salute San Raffaele University , Milan , Italy.
Agosta F; b Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, IRCCS San Raffaele Scientific Institute , Vita-Salute San Raffaele University , Milan , Italy.
Domi T; c Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute , Vita-Salute San Raffaele University , Milan , Italy and.
Guerrieri S; a Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute , Vita-Salute San Raffaele University , Milan , Italy.
Spinelli EG; c Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute , Vita-Salute San Raffaele University , Milan , Italy and.
Pozzi L; c Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute , Vita-Salute San Raffaele University , Milan , Italy and.
Carrera P; d Division of Genetics and Cell Biology, Unit of Genomics for Human Disease Diagnosis and Laboratory of Clinical Molecular Biology , IRCCS San Raffaele Scientific Institute; Vita Salute San Raffaele University , Milan , Italy.
Ferrari M; d Division of Genetics and Cell Biology, Unit of Genomics for Human Disease Diagnosis and Laboratory of Clinical Molecular Biology , IRCCS San Raffaele Scientific Institute; Vita Salute San Raffaele University , Milan , Italy.
Comi G; a Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute , Vita-Salute San Raffaele University , Milan , Italy.
Filippi M; b Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, IRCCS San Raffaele Scientific Institute , Vita-Salute San Raffaele University , Milan , Italy.
Quattrini A; c Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute , Vita-Salute San Raffaele University , Milan , Italy and.
Riva N; a Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute , Vita-Salute San Raffaele University , Milan , Italy.; c Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute , Vita-Salute San Raffaele University , Milan , Italy and.; Pokaż więcej
Źródło :: Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2019 Aug; Vol. 20 (5-6), pp. 449-452. Date of Electronic Publication: 2019 Apr 22.
Typ publikacji :: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Amyotrophic Lateral Sclerosis/*diagnostic imaging
Amyotrophic Lateral Sclerosis/*genetics
C9orf72 Protein/*genetics
DNA Repeat Expansion/*genetics
Neuromyelitis Optica/*diagnostic imaging
Neuromyelitis Optica/*genetics
Amyotrophic Lateral Sclerosis/complications ; Humans ; Male ; Middle Aged ; Neuromyelitis Optica/complications
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 2 2.

Tytuł :: TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.
Autorzy :: Pozzi L; Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Valenza F; Molecular Neurobiology Laboratory, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Mosca L; Medical Genetic Unit, Department of Laboratory Medicine, Niguarda Hospital, Milan, Italy.
Dal Mas A; Molecular Neurobiology Laboratory, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Domi T; Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Romano A; Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Tarlarini C; Medical Genetic Unit, Department of Laboratory Medicine, Niguarda Hospital, Milan, Italy.
Falzone YM; Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.; Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Tremolizzo L; Neurology Unit, 'San Gerardo' Hospital and University of Milano-Bicocca, Monza, Italy.
Sorarù G; Department of Neurosciences, Neuromuscular Center, University of Padova, Padua, Italy.
Cerri F; Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.; Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Ferraro PM; Neuroimaging Research Unit, Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Basaia S; Neuroimaging Research Unit, Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Agosta F; Neuroimaging Research Unit, Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Fazio R; Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Comola M; Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Comi G; Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.; Università Vita e Salute San Raffaele, Milan, Italy.
Ferrari M; Università Vita e Salute San Raffaele, Milan, Italy.; Division of Genetics and Cell Biology, Unit of Genomics for Human Disease Diagnosis, San Raffaele Scientific Institute, Milan, Italy.
Quattrini A; Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Lunetta C; NEuroMuscular Omnicentre (NEMO), Fondazione Serena Onlus, Milan, Italy.
Penco S; Medical Genetic Unit, Department of Laboratory Medicine, Niguarda Hospital, Milan, Italy.
Bonanomi D; Molecular Neurobiology Laboratory, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Carrera P; Division of Genetics and Cell Biology, Unit of Genomics for Human Disease Diagnosis, San Raffaele Scientific Institute, Milan, Italy.
Riva N; Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.; Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.; Pokaż więcej
Źródło :: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2017 Oct; Vol. 88 (10), pp. 869-875. Date of Electronic Publication: 2017 Aug 19.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Mutation*
Amyotrophic Lateral Sclerosis/*genetics
Protein-Serine-Threonine Kinases/*genetics
Adult ; Aged ; Cohort Studies ; Female ; Humans ; Italy ; Male ; Middle Aged ; Pedigree
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 3 3.

Tytuł :: Serum phosphorylated neurofilament heavy-chain levels reflect phenotypic heterogeneity and are an independent predictor of survival in motor neuron disease
Autorzy :: Falzone, Yuri MatteoAff1, Aff2
Domi, TeutaAff1, Aff2
Agosta, FedericaAff3, Aff4
Pozzi, LauraAff1, Aff2
Schito, ParideAff1, Aff2
Fazio, Raffaella
Del Carro, Ubaldo
Barbieri, AlessandraAff5, Aff7
Comola, Mauro
Leocani, LetiziaAff3, Aff7
Comi, Giancarlo
Carrera, Paola
Filippi, MassimoAff2, Aff3, Aff4, Aff5, Aff6
Quattrini, AngeloAff1, Aff2
Riva, NiloAff1, Aff2, Aff5, Aff7; Pokaż więcej
Źródło :: Journal of Neurology. 267(8):2272-2280
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 4 4.

Tytuł :: The Peripheral Nervous System in Amyotrophic Lateral Sclerosis: Opportunities for Translational Research.
Autorzy :: Gentile, Francesco
Scarlino, Stefania
Falzone, Yuri Matteo
Lunetta, Christian
Tremolizzo, Lucio
Quattrini, Angelo
Riva, Nilo; Pokaż więcej
Temat :: PERIPHERAL nervous system
AMYOTROPHIC lateral sclerosis
RNA metabolism
MOTOR neurons
NERVE endings
Źródło :: Frontiers in Neuroscience; 6/25/2019, pN.PAG-N.PAG, 16p
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 5 5.

Tytuł :: mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.
Autorzy :: Pozzi, Laura
Valenza, Fabiola
Mosca, Lorena
Dal Mas, Andrea
Domi, Teuta
Romano, Alessandro
Tarlarini, Claudia
Falzone, Yuri Matteo
Tremolizzo, Lucio
Sorarù, Gianni
Cerri, Federica
Ferraro, Pilar M.
Basaia, Silvia
Agosta, Federica
Fazio, Raffaella
Comola, Mauro
Comi, Giancarlo
Ferrari, Maurizio
Quattrini, Angelo
Lunetta, Christian; Pokaż więcej
Temat :: AMYOTROPHIC lateral sclerosis
BIOLOGICAL mutation
GENETIC disorders
FIBROBLASTS
MESSENGER RNA
PROTEIN expression
PATIENTS
GENEALOGY
GENETIC techniques
LONGITUDINAL method
TRANSFERASES
Źródło :: Journal of Neurology, Neurosurgery & Psychiatry; Oct2017, Vol. 88 Issue 10, p869-875, 7p, 1 Diagram, 3 Charts, 1 Graph
Terminy geograficzne :: ITALY
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 6 6.

Tytuł :: Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.
Autorzy :: Scarlino, Stefania
Domi, Teuta
Pozzi, Laura
Romano, Alessandro
Pipitone, Giovanni Battista
Falzone, Yuri Matteo
Mosca, Lorena
Penco, Silvana
Lunetta, Christian
Sansone, Valeria
Tremolizzo, Lucio
Fazio, Raffaella
Agosta, Federica
Filippi, Massimo
Carrera, Paola
Riva, Nilo
Quattrini, Angelo; Pokaż więcej
Temat :: AMYOTROPHIC lateral sclerosis
MOTOR neuron diseases
PERCUTANEOUS endoscopic gastrostomy
NEUROPATHY
GENES
DEGENERATION (Pathology)
Źródło :: International Journal of Molecular Sciences; May2020, Vol. 21 Issue 9, p3346-3346, 1p, 1 Diagram, 3 Charts, 1 Graph
: Czasopismo naukowe

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