المؤلفون: Francesco Argenton, Giorgia Bergamin, Maria Luisa Mostacciuolo, Domenico Cieri, Giovanni Vazza

المصدر: Biochimica et Biophysica Acta (BBA) - General Subjects. 1860:1247-1255

مصطلحات موضوعية: 0301 basic medicine, Motor neuron, Transgene, Biophysics, MFN2, Mitochondrion, Axonal Transport, Mitochondrial Dynamics, Biochemistry, GTP Phosphohydrolases, Animals, Genetically Modified, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, medicine, Animals, Molecular Biology, Zebrafish, Mitochondrial transport, biology, Anatomy, biology.organism_classification, Mitochondria, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Mutation, Axoplasmic transport, Charcot-Marie-Tooth disease, Mitochondrial dynamics, Kaede, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718cd9bfe6fcc37d54b6b1b6876104f3
https://doi.org/10.1016/j.bbagen.2016.03.007

المؤلفون: Corrado Angelini, Maria Luisa Mostacciuolo, Giovanni Vazza, Cecilia Salvoro, Ludovico Lispi

المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 40(3)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Weakness, Neurology, Genetic Linkage, Mutation, Missense, Neural Conduction, Dermatology, Disease, Receptors, Nicotinic, Bioinformatics, Congenital myasthenic syndrome, 03 medical and health sciences, 0302 clinical medicine, Genetic linkage, Exome Sequencing, CHRNE, Medicine, Missense mutation, Humans, 030212 general & internal medicine, Muscle, Skeletal, Exome sequencing, Aged, Family Health, Myasthenic Syndromes, Congenital, Slow-channel congenital myasthenic syndrome, biology, business.industry, CHRNE mutation, Linkage analysis, Whole-exome sequencing, 2708, Neurology (clinical), Psychiatry and Mental Health, Electromyography, General Medicine, Middle Aged, medicine.disease, Italy, biology.protein, Female, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cea1cf785dbef65880ee4a69c9ec686b
https://pubmed.ncbi.nlm.nih.gov/30542963

المؤلفون: Giovanni Vazza, Cecilia Salvoro, Maria Luisa Mostacciuolo, Stefania Bortoluzzi, Alessandro Coppe, Giorgio Valle, E. Feltrin

مصطلحات موضوعية: 0301 basic medicine, Neuroscience (miscellaneous), Biology, Identity by descent, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Risk Factors, Genetic variation, Exome Sequencing, medicine, Humans, Gene Regulatory Networks, Genetic Predisposition to Disease, Bipolar disorder, whole-exome sequencing, Allele, Gene, Exome sequencing, Genetics, Neurons, bipolar disorder, Haplotype, Genetic Variation, rare variants, medicine.disease, schizophrenia, 030104 developmental biology, Neurology, Schizophrenia, development of neuronal connectivity, identity-by-descent, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5d53b04eebbd3ccfd9f811237a51ed6
http://hdl.handle.net/11577/3259076

المؤلفون: Francesca Boaretto, Angelo Poletti, Valeria Crippa, Ludovico Lispi, Mingyan Fang, Giovanni Vazza, Rosario Rizzuto, Paola Rusmini, Andrea Vettori, Maria Luisa Mostacciuolo, Maria Muglia, Laura Diano, Sofia Zanin, Gian Maria Fabrizi, Zhouxuan Li, Giorgia Pallafacchina, Antonio Petrucci, Elisa Gregianin, Tiziana Cavallaro

المصدر: Human molecular genetics
25 (2016): 3741–3753. doi:10.1093/hmg/ddw220
info:cnr-pdr/source/autori:Gregianin, E.; Pallafacchina, G.; Zanin, S.; Crippa, V.; Rusmini, P.; Poletti, A.; Fang, M.; Li, Z.; Diano, L.; Petrucci, A.; Lispi, L.; Cavallaro, T.; Fabrizi, G. M.; Muglia, M.; Boaretto, F.; Vettori, A.; Rizzuto, R.; Mostacciuolo, M. L.; Vazza, G./titolo:Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling/doi:10.1093%2Fhmg%2Fddw220/rivista:Human molecular genetics (Print)/anno:2016/pagina_da:3741/pagina_a:3753/intervallo_pagine:3741–3753/volume:25
Europe PubMed Central

مصطلحات موضوعية: Male, 0301 basic medicine, Genotyping Techniques, SIGMAR1 gene, Mitochondrion, Endoplasmic Reticulum, distal hereditary motor neuropathy, 0302 clinical medicine, Ca2+ signalling, Genetics (clinical), Exome sequencing, Genetics, General Medicine, Pedigree, medicine.anatomical_structure, Italy, whole-genome sequencing, Mitochondrial Membranes, Female, Signal transduction, Adult, calcium signalling, Cell Survival, Biology, Polymorphism, Single Nucleotide, Cell Line, 03 medical and health sciences, p.E138Q, p.E150K, mitochondria-associated ER membrane, medicine, Humans, Receptors, sigma, Genetic Predisposition to Disease, Calcium Signaling, Molecular Biology, Gene, Loss function, Genetic heterogeneity, Autophagy, Sequence Analysis, DNA, Motor neuron, ER-mitochondria contacts, 030104 developmental biology, sigma-1 receptor, mutation, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b46020ad1526ebcde582f0146b27860
http://www.cnr.it/prodotto/i/368774

المؤلفون: Francesca, Boaretto, Deborah, Snijders, Cecilia, Salvoro, Ambra, Spalletta, Maria Luisa, Mostacciuolo, Mirella, Collura, Salvatore, Cazzato, Donatella, Girosi, Michela, Silvestri, Giovanni Arturo, Rossi, Angelo, Barbato, Giovanni, Vazza

مصطلحات موضوعية: Adult, Genetic Markers, Male, Adolescent, DNA Mutational Analysis, Molecular Medicine, Young Adult, Humans, Genetic Predisposition to Disease, Genetic Testing, Child, Genetic Association Studies, Aged, Kartagener Syndrome, High-Throughput Nucleotide Sequencing, Infant, Axonemal Dyneins, Middle Aged, Phenotype, Italy, Child, Preschool, Mutation, Female, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2709da516a2c7268c194919724c29e95
http://hdl.handle.net/11577/3215325

المؤلفون: Natascia Tiso, Enrico Moro, Andrea Vettori, Giulia Polo, Francesco Argenton, Giovanni Vazza, Maria Luisa Mostacciuolo, Giorgia Bergamin

المصدر: Neuromuscular Disorders. 21:58-67

مصطلحات موضوعية: Embryo, Nonmammalian, Peripheral neuropathy, Developmental Disabilities, Messenger, MFN2, Axonal degeneration, Oligodeoxyribonucleotides, Antisense, GTP Phosphohydrolases, Animals, Genetically Modified, CMT2A, Tubulin, Charcot-Marie-Tooth Disease, Receptors, Receptors, Cholinergic, Axon, Zebrafish, Cholinergic, Genetics (clinical), Nonmammalian, biology, Neuromuscular Diseases, Anatomy, medicine.anatomical_structure, Oligodeoxyribonucleotides, Neurology, Embryo, Tolloid-Like Metalloproteinases, Danio, Down-Regulation, Genetically Modified, Motor Activity, Mitochondrial Proteins, Downregulation and upregulation, medicine, Animals, Humans, Gene silencing, RNA, Messenger, Antisense, Loss function, Body Patterning, Animal, Computational Biology, Membrane Proteins, Zebrafish Proteins, medicine.disease, biology.organism_classification, Disease Models, Animal, Disease Models, Pediatrics, Perinatology and Child Health, RNA, Neurology (clinical), Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::584d852e6ae4b8548ef023e1c5c7d47e
https://doi.org/10.1016/j.nmd.2010.09.002

المؤلفون: Giovanni Vazza, Giuliano Tomelleri, Giuliana Galluzzi, Maria Luisa Mostacciuolo, Corrado Angelini, Carlo P. Trevisan, Marta Miorin, Ebe Pastorello

المصدر: Clinical Genetics. 75:550-555

مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, medicine.medical_specialty, Population, facioscapulohumeral muscular dystrophy, Biology, Epidemiology, Genetics, medicine, Humans, Facioscapulohumeral muscular dystrophy, Age of Onset, Muscular dystrophy, education, Genetics (clinical), Aged, Sequence Deletion, Aged, 80 and over, FSHD, education.field_of_study, Haplotype, epidemiology, PREVALENCE, Autosomal dominant trait, Dystrophy, DNA, Sequence Analysis, DNA, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Pedigree, Italy, Female, Age of onset

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d09edcc67ef0d869d961809ce69d222f
https://doi.org/10.1111/j.1399-0004.2009.01158.x

المؤلفون: Giovanni Vazza, Marco Cason, Giulia Poloni, Elisa Carturan, Kalliopi Pilichou, Elisa Mazzotti, Maria Luisa Mostacciuolo, Gaetano Thiene, Ilaria Rigato, Alessandra Rampazzo, Cristina Basso, Martina Calore, Barbara Bauce, Elisabetta Lazzarini, Gianluca Occhi, Alessandra Lorenzon, Luciano Daliento, Marzia De Bortoli, Domenico Corrado

مصطلحات موضوعية: Adult, Male, Proband, Pathology, medicine.medical_specialty, Adolescent, Cardiomyopathy, medicine.disease_cause, Sudden death, Young Adult, medicine, Humans, Child, Arrhythmogenic Right Ventricular Dysplasia, Aged, Aged, 80 and over, Desmocollins, Mutation, DSC2, business.industry, Homozygote, Haplotype, Exons, Middle Aged, medicine.disease, Founder Effect, Pedigree, Arrhythmogenic right ventricular dysplasia, Italy, Female, business, Cardiology and Cardiovascular Medicine, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a521ad2834e323a7771d3dc084b57440
http://hdl.handle.net/11577/3169552

المؤلفون: Giovanni Vazza, E. Scudellaro, Giulia Perini, Sabina Rampinelli, P. Peruzzi, Cinzia Bertolin, Andrea Vettori, G De Sanctis, Francesca Boaretto, Maria Luisa Mostacciuolo

المصدر: Molecular Psychiatry. 12:87-93

مصطلحات موضوعية: Genetic Markers, Male, NONPARAMETRIC LINKAGE ANALYSIS, Bipolar Disorder, Genotype, Genetic Linkage, Population, Single-nucleotide polymorphism, genome scan, SCHIZOAFFECTIVE DISORDER, SHARED SUSCEPTIBILITY, COMPLEX TRAITS, Chromosomes, Genetic determinism, Cellular and Molecular Neuroscience, Gene Frequency, Gene mapping, Genetic linkage, mental disorders, medicine, Humans, linkage analysis, Genetic Predisposition to Disease, Bipolar disorder, schizophrenia, bipolar disorder, gene mapping, Chromosome Mapping, Female, Follow-Up Studies, Italy, Schizophrenia, Chromosomes, Human, Pair 15, Genomics, education, Molecular Biology, Allele frequency, Genetics, education.field_of_study, Pair 15, medicine.disease, Psychiatry and Mental health, Genetic marker, Psychology, Human

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39ff8412bd06be105183e4ead3432ad4
https://doi.org/10.1038/sj.mp.4001895

المؤلفون: Francesca, Boaretto, Mario, Cacciavillani, Maria Luisa, Mostacciuolo, Ambra, Spalletta, Giuseppe, Piscosquito, Davide, Pareyson, Giovanni, Vazza, Chiara, Briani

المصدر: Musclenerve. 52(4)

مصطلحات موضوعية: Adult, Male, Mutation, Neural Conduction, Humans, Nerve Tissue Proteins, Hereditary Sensory and Motor Neuropathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d32a70cc1378f744983e224b7856c6c9
https://pubmed.ncbi.nlm.nih.gov/26059562