نتائج البحث - "Giuseppe Bonapace"

المصدر: Muscle & nerve
62 (2020): E63–E65. doi:10.1002/mus.27009
info:cnr-pdr/source/autori:Francesco Fortunato 1, Giuseppe Bonapace 2, Rosa Gullace 2, Monica Gagliardi 3, Rita Nisticò 3, Paola Valentino 1, Antonio Gambardella 1 3/titolo:Focal Neuromyotonia Associated With a C9ORF72 Expansion Mutation/doi:10.1002%2Fmus.27009/rivista:Muscle & nerve (Print)/anno:2020/pagina_da:E63/pagina_a:E65/intervallo_pagine:E63–E65/volume:62

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neuromyotonia, Physiology, business.industry, medicine.disease, Amyotrophic lateral sclerosis, C9ORF72 expansion, Phenotypic variation. Similar articles, Cellular and Molecular Neuroscience, C9orf72, Physiology (medical), Mutation (genetic algorithm), medicine, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04f6de37d0f89c6fab7279f489a78216Test
https://doi.org/10.1002/mus.27009Test

7

Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy

المؤلفون: Aldo Quattrone, Andrea Quattrone, Maurizio Morelli, Giuseppe Bonapace, Monica Gagliardi, Radha Procopio, Grazia Annesi, Laura Brighina, Giuseppe Nicoletti, Donatella Malanga

المصدر: Journal of the neurological sciences 430 (2021): 120031–4. doi:10.1016/j.jns.2021.120031
info:cnr-pdr/source/autori:Gagliardi M.; Procopio R.; Nicoletti G.; Morelli M.; Brighina L.; Quattrone A.; Bonapace G.; Malanga D.; Quattrone A.; Annesi G./titolo:Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy/doi:10.1016%2Fj.jns.2021.120031/rivista:Journal of the neurological sciences/anno:2021/pagina_da:120031/pagina_a:4/intervallo_pagine:120031–4/volume:430

مصطلحات موضوعية: Adult, Genetics, Atp13a2 gene, Parkinson's disease, Adolescent, DNA Mutational Analysis, Parkinson Disease, Middle Aged, Multiple System Atrophy, Biology, medicine.disease, Proton-Translocating ATPases, Young Adult, Italy, Neurology, Mutation, Mutation testing, medicine, Humans, In patient, Neurology (clinical), Autosomal recessive form, ATP13A2, Multiple system atrophy, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8474d8c1d0c68adfe79324c75ca6971Test
https://doi.org/10.1016/j.jns.2021.120031Test

8

Genetics and Gene Therapy in Hunter Disease

المؤلفون: Maria Teresa Moricca, Francesca Falvo, Licia Pensabene, Daniela Concolino, Giuseppe Bonapace, Simona Sestito, C Scozzafava, Rosalbina Apa

المصدر: Current Gene Therapy. 18:90-95

مصطلحات موضوعية: medicine.medical_treatment, Genetic enhancement, Genetic Vectors, Iduronate Sulfatase, Hematopoietic stem cell transplantation, Vectors in gene therapy, Bioinformatics, Viral vector, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Drug Discovery, Genetics, medicine, Lysosomal storage disease, Animals, Humans, 030212 general & internal medicine, Mucopolysaccharidosis type II, Molecular Biology, Genetics (clinical), Mucopolysaccharidosis II, business.industry, Gene Transfer Techniques, Infant, Hunter syndrome, Genetic Therapy, medicine.disease, Transplantation, Disease Models, Animal, Retroviridae, Child, Preschool, Mutation, Molecular Medicine, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8271ac07634edab7f8710d53b209c273Test
https://doi.org/10.2174/1566523218666180404155759Test

9

Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by fragile X tremor ataxia syndrome

المؤلفون: Grazia Iannello, Radha Procopio, Monica Gagliardi, Lucia Ilaria Manfredini, Daniela Concolino, Giuseppe Bonapace, Gaetano Barbagallo, Grazia Annesi, Gennarina Arabia, Rosa Gullace, Angela Lupo, Aldo Quattrone

المصدر: Heliyon, Vol 5, Iss 6, Pp e01954-(2019)
Heliyon (Londen) 5 (2019): e01954. doi:10.1016/j.heliyon.2019.e01954
info:cnr-pdr/source/autori:Bonapace, Giuseppe; Gullace, Rosa; Concolino, Daniela; Iannello, Grazia; Procopio, Radha; Gagliardi, Monica; Arabia, Gennarina; Barbagallo, Gaetano; Lupo, Angela; Manfredini, Lucia Ilaria; Annesi, Grazia; Quattrone, Aldo/titolo:Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by fragile X tremor ataxia syndrome/doi:10.1016%2Fj.heliyon.2019.e01954/rivista:Heliyon (Londen)/anno:2019/pagina_da:e01954/pagina_a:/intervallo_pagine:e01954/volume:5
Heliyon

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a8fb37b1ac2a93e5617e3e58f387732Test
http://www.sciencedirect.com/science/article/pii/S2405844019355653Test

10

GP15 Phenylalanine measurements in human blood using NIR spectroscopy and DBS, a preliminary study

المؤلفون: Onorina Marasco, Ashour Michael, Daniela Concolino, Stefano Alessandro Vismara, Giuseppe Bonapace, Teresa Greto, Antonio Valentini, Giovanna Scozzafava, Nicola Perrotti, Marco Flavio Michele Vismara, Maria Pittelli, Maria Teresa Moricca

المصدر: Abstracts.

مصطلحات موضوعية: Analyte, Newborn screening, Chromatography, Phenylalanine hydroxylase, biology, Human blood, business.industry, Phenylketonurias, Near-infrared spectroscopy, Phenylalanine, Tetrahydrobiopterin, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, biology.protein, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::05d086e5bbb1530245d0b13369752f46Test
https://doi.org/10.1136/archdischild-2019-epa.82Test

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