Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Wyszukujesz frazę ""Ciano C"" wg kryterium: Autor


Wyświetlanie 1-7 z 7
Tytuł:
Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease.
Autorzy:
Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Danti FR; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Balistreri F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Baratta S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ciano C; Unit of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pagliano E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Moroni I; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pokaż więcej
Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2020 Dec; Vol. 25 (4), pp. 429-432. Date of Electronic Publication: 2020 Sep 04.
Typ publikacji:
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms:
Charcot-Marie-Tooth Disease/*genetics
Charcot-Marie-Tooth Disease/*physiopathology
Tripartite Motif Proteins/*genetics
Ubiquitin-Protein Ligases/*genetics
Adolescent ; Charcot-Marie-Tooth Disease/pathology ; Female ; Humans ; Male ; Phenotype
Raport
Tytuł:
A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.
Autorzy:
Piscosquito G; Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Magri S; Unit of Genetics of Neurodegenerative and Metabolic Disease, Department of Diagnostics and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Saveri P; Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Milani M; Unit of Genetics of Neurodegenerative and Metabolic Disease, Department of Diagnostics and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Ciano C; Neurophysiopathology and Epilepsy Centre, Department of Diagnostics and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Farina L; Unit of Neuroradiology, Department of Diagnostics and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Disease, Department of Diagnostics and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Pareyson D; Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Pokaż więcej
Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2017 Mar; Vol. 22 (1), pp. 47-50.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cell Cycle Proteins/*genetics
Charcot-Marie-Tooth Disease/*genetics
Intracellular Signaling Peptides and Proteins/*genetics
Mutation/*genetics
Refsum Disease/*genetics
Adult ; Cerebellum/diagnostic imaging ; Charcot-Marie-Tooth Disease/diagnostic imaging ; DNA Mutational Analysis ; Female ; Humans ; Magnetic Resonance Imaging ; Medulla Oblongata/diagnostic imaging ; Refsum Disease/diagnostic imaging ; Spinal Cord/diagnostic imaging
SCR Disease Name:
Neuropathy, hereditary motor and sensory, LOM type
Czasopismo naukowe
Tytuł:
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
Autorzy:
Piscosquito G; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Saveri P; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Magri S; Unit of Genetics of Neurodegenerative and Metabolic Disease, Department of Diagnostics and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Ciano C; Neurophysiopathology and Epilepsy Centre, Department of Diagnostics and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Gandioli C; Division of Child Neurology, Department of Pediatric Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Morbin M; Division of Neurology and Neuropathology; Department of Diagnostics and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Bella DD; Unit of Genetics of Neurodegenerative and Metabolic Disease, Department of Diagnostics and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Moroni I; Division of Child Neurology, Department of Pediatric Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Disease, Department of Diagnostics and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Pareyson D; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Pokaż więcej
Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2016 Sep; Vol. 21 (3), pp. 142-9.
Typ publikacji:
Journal Article
MeSH Terms:
Charcot-Marie-Tooth Disease/*genetics
Demyelinating Diseases/*genetics
Mutation/*genetics
Proteins/*genetics
Adolescent ; Adult ; Aged ; Charcot-Marie-Tooth Disease/complications ; Charcot-Marie-Tooth Disease/pathology ; Demyelinating Diseases/complications ; Demyelinating Diseases/pathology ; Electrophysiological Phenomena/physiology ; Female ; Genetic Testing ; Humans ; Intracellular Signaling Peptides and Proteins ; Longitudinal Studies ; Male ; Middle Aged ; Severity of Illness Index ; Young Adult
SCR Disease Name:
Charcot-Marie-Tooth disease, Type 4C
Czasopismo naukowe
Tytuł:
Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations.
Autorzy:
Piscosquito G; Department of Clinical Neurosciences, Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
Saveri P; Department of Clinical Neurosciences, Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
Magri S; Department of Diagnostics and Applied Technology, Unit of Genetics of Neurodegenerative and Metabolic Disease, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
Ciano C; Department of Diagnostics and Applied Technology, Neurophysiopathology and Epilepsy Centre, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
Di Bella D; Department of Diagnostics and Applied Technology, Unit of Genetics of Neurodegenerative and Metabolic Disease, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
Milani M; Department of Diagnostics and Applied Technology, Unit of Genetics of Neurodegenerative and Metabolic Disease, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
Taroni F; Department of Diagnostics and Applied Technology, Unit of Genetics of Neurodegenerative and Metabolic Disease, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
Pareyson D; Department of Clinical Neurosciences, Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
Pokaż więcej
Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2015 Dec; Vol. 20 (4), pp. 380-6.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Charcot-Marie-Tooth Disease/*genetics
GTP Phosphohydrolases/*genetics
Mitochondrial Proteins/*genetics
Aged ; Female ; Humans ; Male ; Middle Aged ; Pedigree
Czasopismo naukowe
Tytuł:
X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.
Autorzy:
Sagnelli A; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Piscosquito G
Chiapparini L
Ciano C
Salsano E
Saveri P
Milani M
Taroni F
Pareyson D
Pokaż więcej
Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2014 Jun; Vol. 19 (2), pp. 183-6.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Charcot-Marie-Tooth Disease/*genetics
Charcot-Marie-Tooth Disease/*physiopathology
Connexins/*genetics
Mutation/*genetics
Stroke/*physiopathology
Adult ; Brain/pathology ; Humans ; Magnetic Resonance Imaging ; Male ; Gap Junction beta-1 Protein
SCR Disease Name:
Charcot-Marie-Tooth disease, X-linked, 1
Czasopismo naukowe
Tytuł:
Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy.
Autorzy:
Piscosquito G; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
Salsano E
Ciano C
Palamara L
Morbin M
Pareyson D
Pokaż więcej
Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2013 Jun; Vol. 18 (2), pp. 185-8.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Charcot-Marie-Tooth Disease/*complications
Charcot-Marie-Tooth Disease/*physiopathology
Polyradiculoneuropathy/*complications
Polyradiculoneuropathy/*physiopathology
Adult ; Charcot-Marie-Tooth Disease/pathology ; Humans ; Male ; Myelin-Associated Glycoprotein/immunology ; Polyradiculoneuropathy/pathology
Czasopismo naukowe
Tytuł:
Influence of gender and pregnancy on CMT1A.
Autorzy:
Pareyson, D.
Dell’Anna, E
DiMonda, T
Scaioli, V
Ciano, C
Sghirlanzoni, A
Lauria, G
Morbin, M
Laur, M
Solari, A
Taroni, F
Pokaż więcej
Temat:
CHARCOT-Marie-Tooth disease
GENETIC disorders
ELECTROPHYSIOLOGY
PREGNANT women
PERONEAL nerve diseases
AFFERENT pathway diseases
Źródło:
Journal of the Peripheral Nervous System; Jun2004, Vol. 9 Issue 2, p118-118, 1p
Czasopismo naukowe
    Wyświetlanie 1-7 z 7

    Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies