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1. Full Text Early onset demyelinating Charcot‐Marie‐Tooth disease caused by a novel in‐frame isoleucine deletion in peripheral myelin protein 2
by Geroldi, Alessandro and Prada, Valeria and Veneri, Francesca and Trevisan, Lucia and Origone, Paola and Grandis, Marina and Schenone, Angelo and Gemelli, Chiara and Lanteri, Paola and Fossa, Paola and Mandich, Paola and Bellone, Emilia
Journal of the peripheral nervous system, ISSN 1085-9489, 06/2020, Volume 25, Issue 2, pp. 102 - 106
CMT1 | neuropathy | lipids | PMP2 | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Proteins | Myelination | Molecular modelling | Next-generation sequencing | Demyelination | Lipids | Neuropathy | Mutation | Protein structure | Isoleucine | Index Medicus
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2. Full Text Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1
by Capponi, Simona and Geuens, Thomas and Geroldi, Alessandro and Origone, Paola and Verdiani, Simonetta and Cichero, Elena and Adriaenssens, Elias and Winter, Vicky and Bandettini di Poggio, Monica and Barberis, Marco and Chiò, Adriano and Fossa, Paola and Mandich, Paola and Bellone, Emilia and Timmerman, Vincent
Human mutation, ISSN 1059-7794, 11/2016, Volume 37, Issue 11, pp. 1202 - 1208
sALS | HSPB1 | chaperone activity | molecular modelling | Molecular modelling | SALS | Chaperone activity | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | HSP27 Heat-Shock Proteins - chemistry | Genetic Predisposition to Disease | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Protein Multimerization | HSP27 Heat-Shock Proteins - genetics | Amyotrophic Lateral Sclerosis - metabolism | HSP27 Heat-Shock Proteins - metabolism | Female | Italy | Aged | Mutation | Physiological aspects | Development and progression | Amyotrophic lateral sclerosis | Nervous system diseases | Neurons | Proteins | Pathogenesis | Index Medicus
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3. Full Text A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
by Gotta, Fabio and Lamp, Merit and Geroldi, Alessandro and Trevisan, Lucia and Origone, Paola and Fugazza, Giuseppina and Fabbri, Sabrina and Nesti, Claudia and Rubegni, Anna and Morani, Federica and Santorelli, Filippo Maria and Bellone, Emilia and Mandich, Paola
Annals of human genetics, ISSN 0003-4800, 09/2020, Volume 84, Issue 5, pp. 417 - 422
sensorineural hearing loss | neuropathy | Twinkle | ovarian dysgenesis | Perrault syndrome | TWNK | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Mitochondria | Phenotypes | Ataxia | Ovaries | Mutation | Hearing impairment | Peripheral neuropathy | Genotypes | Hearing loss | Index Medicus
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4. Full Text Genetic counselling in ALS: facts, uncertainties and clinical suggestions
by Chiò, Adriano and Battistini, Stefania and Calvo, Andrea and Caponnetto, Claudia and Conforti, Francesca L and Corbo, Massimo and Giannini, Fabio and Mandrioli, Jessica and Mora, Gabriele and Sabatelli, Mario and Ajmone, Clara and Mastro, Enza and Pain, Debora and Mandich, Paola and Penco, Silvana and Restagno, Gabriella and Zollino, Marcella and Surbone, Antonella and ITALSGEN Consortium and the ITALSGEN Consortium
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 05/2014, Volume 85, Issue 5, pp. 478 - 485
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Frontotemporal Dementia - genetics | Phenotype | Genetic Testing | Amyotrophic Lateral Sclerosis - therapy | Amyotrophic Lateral Sclerosis - genetics | Humans | Amyotrophic Lateral Sclerosis - diagnosis | Genotype | Frontotemporal Dementia - diagnosis | Mutation - genetics | Genetic Counseling | Frontotemporal Dementia - therapy | Care and treatment | Genetic discrimination | Amyotrophic lateral sclerosis | Genetic aspects | Diagnosis | Frontotemporal dementia | Risk factors | Index Medicus
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5. Full Text Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies
by Mandich, Paola and Fossa, Paola and Capponi, Simona and Geroldi, Alessandro and Acquaviva, Massimo and Gulli, Rossella and Ciotti, Paola and Manganelli, Fiore and Grandis, Marina and Bellone, Emilia
European journal of human genetics : EJHG, ISSN 1018-4813, 09/2009, Volume 17, Issue 9, pp. 1129 - 1134
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Frameshift Mutation | Myelin P0 Protein | Demyelinating Diseases - genetics | Humans | Mutation, Missense | Charcot-Marie-Tooth Disease - pathology | Charcot-Marie-Tooth Disease - genetics | Charcot-Marie-Tooth Disease - classification | DNA Mutational Analysis | Axons - pathology | Peripheral Nervous System Diseases - pathology | Mutation | Demyelinating Diseases - pathology | Peripheral Nervous System Diseases - genetics | Phenotypes | Neurosciences | Immunoglobulins | Congenital diseases | Myelin | Pathogenesis | Genes | Teeth | Amino acids | Peripheral neuropathy | Amino acid substitution | Proteins | Molecular modelling | Gene frequency | Demyelination | Transgenic animals | Charcot-Marie-Tooth disease | Myelin P0 protein | Protein structure | Index Medicus | CMT1 | MPZ | molecular modelling | CMT2
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6. Full Text Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
by Moss, Davina J Hensman, MBBS and Pardiñas, Antonio F, PhD and Langbehn, Douglas, Prof and Lo, Kitty, PhD and Leavitt, Blair R, Prof and Roos, Raymund, Prof and Durr, Alexandra, Prof and Mead, Simon, Prof and Holmans, Peter, Prof and Jones, Lesley, Prof and Tabrizi, Sarah J, Prof and TRACK-HD investigators and REGISTRY investigators and TRACK-HD Investigators and REGISTRY Investigators
Lancet neurology, ISSN 1474-4422, 2017, Volume 16, Issue 9, pp. 701 - 711
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Severity of Illness Index | Humans | Huntington Disease - genetics | Adult | MutS Homolog 3 Protein | Registries | DNA-Binding Proteins - genetics | Genome-Wide Association Study - methods | Longitudinal Studies | Principal Component Analysis | Disease Progression | Huntington Disease - physiopathology | Genetic research | Genetic markers | Genetic aspects | Analysis | Genomics | Huntingtons disease | Neuroimaging | Animal models | Ontology | Huntingtin | Cognitive ability | Genomes | Single-nucleotide polymorphism | Motor task performance | DNA repair | Proteins | Consortia | Genetic analysis | Lead | Dihydrofolate reductase | Trinucleotide repeat diseases | Age | Deoxyribonucleic acid--DNA | Medical imaging | Polyglutamine | Trinucleotide repeats | Chromosome 5 | Huntington's disease | Meta-analysis | Studies | Point mutation | Index Medicus | Life Sciences | Human health and pathology
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7. Full Text Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise"
by Grandis, Marina and Geroldi, Alessandro and Gulli, Rossella and Manganelli, Fiore and Gotta, Fabio and Lamp, Merit and Origone, Paola and Trevisan, Lucia and Gemelli, Chiara and Fabbri, Sabrina and Schenone, Angelo and Tozza, Stefano and Santoro, Lucio and Bellone, Emilia and Mandich, Paola
Orphanet journal of rare diseases, ISSN 1750-1172, 10/2018, Volume 13, Issue 1, pp. 177 - 177
Polyneuropathy | TTR | CMT2 | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Genetic Predisposition to Disease | Amyloid Neuropathies, Familial - genetics | Humans | Middle Aged | Female | Male | Mutation | Amyloid Neuropathies, Familial - diagnosis | Diagnosis | Gene mutations | Health aspects | Charcot-Marie-Tooth disease | Genotype & phenotype | Maternal & child health | Transthyretin | Amyotrophic lateral sclerosis | Amyloid | Amyloidosis | Neuropathy | Index Medicus
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8. Full Text Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post‐mortem genetic analysis of tissue specimens
by Ciotti, Paola and Mandich, Paola and Bellone, Emilia and Ceppa, Paola and Bovio, Marta and Ameri, Pietro and Torre, Giancarlo and Fiocca, Roberto and Murialdo, Giovanni
American journal of medical genetics. Part A, ISSN 1552-4825, 11/2011, Volume 155, Issue 11, pp. 2750 - 2753
HLXB9 gene | neuroendocrine tumor | Currarino syndrome | pelvic mass | Pelvic mass | Neuroendocrine tumor | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Biological and medical sciences | Medical genetics | Medical sciences | Uterus - pathology | Carcinoma, Neuroendocrine - diagnosis | Genetic Testing | Rectum - pathology | Humans | Sacrum - abnormalities | Mutation, Missense | Syringomyelia - pathology | Fatal Outcome | Adult | Female | Pelvis - pathology | Anal Canal - pathology | Syringomyelia - diagnosis | Sacrum - pathology | European Continental Ancestry Group - genetics | Genetic Association Studies | Digestive System Abnormalities - genetics | Uterus - abnormalities | Carcinoma, Neuroendocrine - genetics | Constipation - pathology | Transcription Factors - genetics | Homeodomain Proteins - genetics | Rectum - abnormalities | Anal Canal - abnormalities | Dermoid Cyst - pathology | Digestive System Abnormalities - diagnosis | Magnetic Resonance Imaging | Carcinoma, Neuroendocrine - pathology | Syringomyelia - genetics | Heterozygote | Digestive System Abnormalities - pathology | Transformation | Congenital defects | Anorectal | Ovaries | Pelvis | Hereditary diseases | Embryogenesis | Sacrum | Cysts | Uterus | Genetic analysis | Meninges | Mutation | Constipation | Neuroendocrine tumors | Index Medicus
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9. Full Text Genetic factors and systemic sclerosis
by Murdaca, Giuseppe and Contatore, Miriam and Gulli, Rossella and Mandich, Paola and Puppo, Francesco
Autoimmunity reviews, ISSN 1568-9972, 2016, Volume 15, Issue 5, pp. 427 - 432
Allergy and Immunology | Epigenetics | Genetic factors | Polymorphisms | Systemic sclerosis | Life Sciences & Biomedicine | Immunology | Science & Technology | B-Lymphocytes - immunology | Epigenesis, Genetic | Humans | Interleukin-12 - immunology | Scleroderma, Systemic - genetics | Tumor Necrosis Factor-alpha - immunology | T-Lymphocytes - immunology | Scleroderma, Systemic - immunology | Development and progression | Genetic aspects | Systemic scleroderma | Scleroderma (Disease)
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