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1
المؤلفون: M. Bengoa Caamaño, J M Pardal-Fernandez, S. Álvarez, M C Carrascosa-Romero, C. de Cabo, M.C. Medina-Monzón
المصدر: Neuromuscular Disorders. 28:881-884
مصطلحات موضوعية: Male, 0301 basic medicine, Bioinformatics, Compound heterozygosity, Genetic analysis, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Gene, Genetics (clinical), Myasthenic Syndromes, Congenital, Muscle Weakness, Symporters, business.industry, Infant, Newborn, Congenital myasthenic syndrome, medicine.disease, Choline transporter, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), New mutation, Neurology (clinical), Differential diagnosis, Respiratory Insufficiency, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c3cd92b125b1a458d7b30f02ec35eaTest
https://doi.org/10.1016/j.nmd.2018.06.020Test -
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المؤلفون: Charles Marques Lourenço, Jaime Eduardo Cecílio Hallak, Wilson Marques, Pedro J. Tomaselli, Silmara P. Gouvea, Fernanda Barbosa Figueiredo, Silvana Giuliatti, Wilson A. Silva, Anna Paula Paranhos Miranda Covaleski
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Population, Prevalence, Nerve Tissue Proteins, Disease, Biology, Cohort Studies, 03 medical and health sciences, Tooth disease, Young Adult, 0302 clinical medicine, Recessive inheritance, Charcot-Marie-Tooth Disease, Humans, education, Child, Gene, Genetics (clinical), Likely pathogenic, Genetics, Guanine Deaminase, education.field_of_study, MUTAÇÃO GENÉTICA, Axons, nervous system diseases, Pedigree, 030104 developmental biology, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, New mutation, Mutation, Female, Neurology (clinical), 030217 neurology & neurosurgery, Brazil
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef65dc156ae331e9a88bd20c1ef50efbTest
https://pubmed.ncbi.nlm.nih.gov/33903021Test -
3
المؤلفون: Alessandra Renieri, Diego Lopergolo, Anna Maria Pinto, Carla Battisti, A. Russo
مصطلحات موضوعية: Epilepsy, business.industry, COL4A1 gene, MEDLINE, Headache, Bioinformatics, medicine.disease, Small vessel disease, Leukoencephalopathy, Stroke, Neurology, New mutation, medicine, Fundus oculi, Neurology (clinical), business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c984db40b269f738529441a07187928aTest
http://hdl.handle.net/11365/1133689Test -
4
المؤلفون: Aida Bushati, Jera Kruja, Aferdita Tako, Anila Babameto
المصدر: Journal of the Neurological Sciences. 429:118273
مصطلحات موضوعية: Genetics, Neurology, business.industry, New mutation, Bethlem myopathy, Medicine, Neurology (clinical), business, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::831a4702582763110a1e9e8e8838fcb9Test
https://doi.org/10.1016/j.jns.2021.118273Test -
5
المؤلفون: Sofia Hadjieconomou, Jenny Hughes
المصدر: Pediatric Dermatology. 37:983-984
مصطلحات موضوعية: Male, Hemangioma, Cavernous, Central Nervous System, medicine.medical_specialty, Pathology, Neurology, Adolescent, Dermatology, Cerebral cavernous malformations, Asymptomatic, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Proto-Oncogene Proteins, medicine, Humans, Genetic Testing, Family history, Genetic testing, medicine.diagnostic_test, business.industry, Spinal cord, Magnetic Resonance Imaging, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, New mutation, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::096af2074d571bf5778f63d926e75642Test
https://doi.org/10.1111/pde.14296Test -
6
المؤلفون: Christian R. Andres, Patrick Vourc'h, Arnaud Lacour, Stéphane Beltran, Philippe Couratier, Hélène Blasco, Philippe Corcia, Veronique Danel
المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 18:298-301
مصطلحات موضوعية: Adult, Models, Molecular, 0301 basic medicine, Neural Conduction, Biology, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Juvenile, Amino Acid Sequence, Amyotrophic lateral sclerosis, Gene, Genetics, Amyotrophic Lateral Sclerosis, C-Terminal Amino Acid, medicine.disease, 030104 developmental biology, Neurology, Mutation, New mutation, Disease Progression, RNA-Binding Protein FUS, Female, Bulbar onset, Neurology (clinical), Respiratory Insufficiency, Novel mutation, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a76ec78625ced39bc203072eb69e28Test
https://doi.org/10.1080/21678421.2016.1265564Test -
7
المؤلفون: J. Jaworski, K. Rejdak, L. Kotuła
المصدر: Journal of the Neurological Sciences. 405:20
مصطلحات موضوعية: Neurology, business.industry, New mutation, Medicine, Neurology (clinical), Bioinformatics, business, Gene, Exome, Infantile cerebral palsy, Genetic analysis, Dystonic movements
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::49563a5a36031f77d1841d16036195e5Test
https://doi.org/10.1016/j.jns.2019.10.1584Test -
8
المؤلفون: Anna Latorre, Bettina Balint, Vittorio Rispoli, Kailash P. Bhatia
المصدر: Movement Disorders Clinical Practice. 6:265-266
مصطلحات موضوعية: Genetics, Ataxia, Neurology, business.industry, New mutation, medicine, Neurology (clinical), Oculomotor apraxia, medicine.symptom, medicine.disease, business, Phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b734e4dac71b4d743861d4596a5ef959Test
https://doi.org/10.1002/mdc3.12725Test -
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المؤلفون: Carmen Entrala-Bernal, María Isabel Rodríguez Lucenilla, Francisco Javier Aguirre-Rodríguez, Maria Jesus Alvarez-Cubero, C. Mata, Francisco Fernandez-Rosado
المصدر: Journal of the Neurological Sciences. 357:332-334
مصطلحات موضوعية: Genetics, Spastic Paraplegia, Hereditary, business.industry, media_common.quotation_subject, Nonsense, medicine.disease, Mixed Function Oxygenases, Spastic Paraplegias, Neurology, Codon, Nonsense, Child, Preschool, Mutation (genetic algorithm), New mutation, medicine, Spastic, Humans, Female, Neurology (clinical), Girl, Paraplegia, business, media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a356c7a3cf465ef43eda37d3cb496bbbTest
https://doi.org/10.1016/j.jns.2015.07.042Test -
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المؤلفون: Luigi D’Ambrosio, Elena Gennaro, Salvatore Striano, Federico Zara, Andrea de Bartolomeis, Diana Galletta, Pia Bernardo, Felice Iasevoli, Serena Troisi, Antonietta Coppola
المساهمون: Bernardo, Pia, Galletta, Diana, Iasevoli, Felice, D'Ambrosio, Luigi, Troisi, Serena, Gennaro, Elena, Zara, Federico, Striano, Salvatore, De Bartolomeis, Andrea, Coppola, Antonietta
المصدر: Seizure. 51
مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Neurology, CHD2 gene, Psychiatric profile, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetic epilepsy, medicine, Humans, behavioral, DNA-Binding Proteins, Female, Phenotype, Psychotic Disorders, Mutation, Genetics, business.industry, Cognition, General Medicine, medicine.disease, 030104 developmental biology, CHD2, Mutation (genetic algorithm), New mutation, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a799a90f91cafce2d861384cf314b373Test
https://pubmed.ncbi.nlm.nih.gov/28910737Test