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1دورية أكاديمية
المصدر: Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-4 (2019)
مصطلحات موضوعية: Cerebellar atrophy, Hereditary spastic paraplegia, SPG30, KIF1A, Pediatrics, RJ1-570
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1824-7288
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2دورية أكاديمية
المؤلفون: Ivana Frongia, Susanna Rizzi, Margherita Baga, Laura Maria Ceteroni, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Milja Kaare, Francesco Pisani, Carlo Fusco
المصدر: Frontiers in Neurology, Vol 12 (2021)
مصطلحات موضوعية: Charcot–Marie–Tooth, axonal neuropathy, pyramidal signs, white matter abnormalities, MORC2 gene, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, Stefano Giuseppe Caraffi, Roberta Zuntini, Simonetta Rosato, Marzia Pollazzon, Alessandra Terracciano, Manuela Napoli, Susanna Rizzi, Grazia Gabriella Salerno, Francesca Clementina Radio, Marcello Niceta, Elena Parrini, Carlo Fusco, Giancarlo Gargano, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Orsetta Zuffardi, Livia Garavelli
المصدر: Genes, Vol 12, Iss 8, p 1208 (2021)
مصطلحات موضوعية: CEP85L, lissencephaly 10, posterior lissencephaly, double-cortex, abnormalities of cortical development, whole exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Carlo Fusco, Carlotta Spagnoli, Grazia Gabriella Salerno, Elena Pavlidis, Daniele Frattini, Francesco Pisani
المصدر: Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-5 (2017)
مصطلحات موضوعية: HNPP, PMP22, Neuropathy, Childhood, Point mutation, Pediatrics, RJ1-570
وصف الملف: electronic resource
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5
المؤلفون: Daniele Frattini, Susanna Rizzi, Carlotta Spagnoli, Grazia Gabriella Salerno, Carlo Fusco, Juha Koskenvuo, Silvia Schiavoni
المصدر: Journal of Clinical Neuroscience. 94:281-285
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Hereditary spastic paraplegia, Mutation, Missense, Epilepsy, Physiology (medical), Angelman syndrome, medicine, Humans, Amyotrophic lateral sclerosis, Child, Early onset, Dystonia, Spastic Paraplegia, Hereditary, business.industry, Membrane Proteins, General Medicine, medicine.disease, nervous system diseases, Peripheral neuropathy, Neurology, Autosomal Dominant Hereditary Spastic Paraplegia, Surgery, Neurology (clinical), business
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6
المؤلفون: Carlotta Spagnoli, Daniele Frattini, Susanna Rizzi, Carlo Fusco, Francesco Pisani, Grazia Gabriella Salerno, Silvia Schiavoni
المصدر: Epileptic Disorders. 23:739-743
مصطلحات موضوعية: Male, medicine.medical_treatment, Nerve Tissue Proteins, Drug resistance, Bioinformatics, Epilepsy, drug-resistant epilepsy, Neurodevelopmental disorder, medicine, Humans, Child, Beneficial effects, Uncertain significance, business.industry, Epileptic encephalopathy, General Medicine, Drug Resistant Epilepsy, medicine.disease, neurodevelopmental disorder, NBEA, epileptic encephalopathy, Pharmaceutical Preparations, Neurology, ketogenic diet, Neurodevelopmental Disorders, Epilepsy, Generalized, Neurology (clinical), Carrier Proteins, Diet, Ketogenic, business, Ketogenic diet
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7
المؤلفون: Carlotta Spagnoli, Daniele Frattini, Juha Koskenvuo, Carlo Fusco, Grazia Gabriella Salerno, Susanna Rizzi
المصدر: Molecular Syndromology. 12:101-105
مصطلحات موضوعية: Combination therapy, business.industry, Apnea, Rett syndrome, Pitt–Hopkins syndrome, medicine.disease, Bioinformatics, Alprazolam, Hyperventilation, Genetics, medicine, Aripiprazole, medicine.symptom, business, Acetazolamide, Genetics (clinical), medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::84539908d44a92ca7269c4328a896697
https://doi.org/10.1159/000512566 -
8
المؤلفون: Livia Garavelli, Daniele Frattini, Gabriele Trimarchi, Stefano Giuseppe Caraffi, Susanna Rizzi, Carlotta Spagnoli, Carlo Fusco, Rosario Pascarella, Grazia Gabriella Salerno, Claudio Moratti
المصدر: American Journal of Medical Genetics Part A. 182:2675-2679
مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Pediatrics, medicine.medical_specialty, business.industry, Scoliosis, 030105 genetics & heredity, medicine.disease, Hypotonia, 03 medical and health sciences, Epilepsy, 030104 developmental biology, Neurodevelopmental disorder, Atrophy, Intellectual disability, Genetics, medicine, Cerebellar atrophy, medicine.symptom, business, Genetics (clinical)
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9
المؤلفون: Luca Soliani, Juha Koskenvuo, Susanna Rizzi, Carlo Fusco, Miika Mehine, Carlotta Spagnoli, Daniele Frattini, Grazia Gabriella Salerno
المصدر: Journal of Neuro-Ophthalmology. 41:e85-e88
مصطلحات موضوعية: Ophthalmology, Pathology, medicine.medical_specialty, business.industry, Congenital fibrosis of the extraocular muscles, medicine, Neurology (clinical), medicine.disease, business, Phenotype
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fe7c31a858329872c5e2a5cbfceb98d1
https://doi.org/10.1097/wno.0000000000000921 -
10
المصدر: Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-4 (2019)
Italian Journal of Pediatricsمصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Microcephaly, Hereditary spastic paraplegia, Mutation, Missense, Kinesins, Case Report, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, Humans, Medicine, Missense mutation, SPG30, Gene, KIF1A, Polymorphism, Genetic, Spastic Paraplegia, Hereditary, business.industry, lcsh:RJ1-570, Brain, Metalloendopeptidases, lcsh:Pediatrics, Exons, medicine.disease, Magnetic Resonance Imaging, 030104 developmental biology, Speech delay, Cerebellar atrophy, ATPases Associated with Diverse Cellular Activities, Atrophy, medicine.symptom, business, 030217 neurology & neurosurgery