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1
المؤلفون: Mineo Takagi, Masatoyo Nishizawa, Tetsutaro Ozawa, Junsuke Shimbo, Keiko Tanaka, Shuichi Igarashi, Kenju Hara, Satoshi Naruse, Osamu Onodera, Tomohiko Ishihara
المصدر: Neurology. 66(8)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Canada, Nerve Tissue Proteins, Protein Serine-Threonine Kinases, Bioinformatics, Frameshift mutation, Minor Histocompatibility Antigens, Asian People, Japan, WNK Lysine-Deficient Protein Kinase 1, Internal medicine, Hereditary sensory and autonomic neuropathy, medicine, HSN2, Humans, Hereditary Sensory and Autonomic Neuropathies, Frameshift Mutation, Gene, business.industry, Intracellular Signaling Peptides and Proteins, Causative gene, medicine.disease, Pedigree, Endocrinology, New mutation, Mutation (genetic algorithm), Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29cd0b32e75e743872956bd3baa806eeTest
https://pubmed.ncbi.nlm.nih.gov/16636245Test -
2
المؤلفون: Mara D'Onofrio, G. Nappi, A. Di Mambro, D. Fortini, Giorgia Montagna, Grazia Sances, Jean Schoenen, Filippo M. Santorelli, Maria Gabriella Buzzi, G. S. Grieco, Francesco Pierelli, Ferdinando Nicoletti, A. Ambrosini
المصدر: Neurology. 65(11)
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Genotype, Basilar migraine, new mutation, ATP1A2 gene, DNA Mutational Analysis, Migraine with Aura, Mutation, Missense, medicine.disease_cause, ATP1A2, Internal medicine, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Genetic Testing, Allele, Familial hemiplegic migraine, Aged, Mutation, business.industry, Basilar-Type Migraine, Brain, Middle Aged, medicine.disease, Migraine with aura, Endocrinology, Phenotype, Migraine, Italy, Chromosomes, Human, Pair 1, Immunology, Female, Neurology (clinical), medicine.symptom, Sodium-Potassium-Exchanging ATPase, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a52436a4463bba10fd48079c49bda75Test
https://pubmed.ncbi.nlm.nih.gov/16344534Test -
3
المؤلفون: Filippo M. Santorelli, Andrea Sabino, Enrico Bertini, Alessandra Tessa, Adele D'Amico, Serenella Servidei
المصدر: ResearcherID
مصطلحات موضوعية: Proband, Atlastin, Adult, Male, Spastic gait, Heterozygote, DNA Mutational Analysis, Mutation, Missense, Penetrance, Biology, Genetic analysis, GTP Phosphohydrolases, Genetic Heterogeneity, GTP-Binding Proteins, medicine, HSP, Humans, Point Mutation, Gene, Genes, Dominant, Genetics, Spastic Paraplegia, Hereditary, Membrane Proteins, Exons, medicine.disease, Pedigree, Settore MED/26 - NEUROLOGIA, Amino Acid Substitution, Italy, New mutation, Autosomal Dominant Hereditary Spastic Paraplegia, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d39aedc0660fc81d15b5428dd99cbc9eTest
https://pubmed.ncbi.nlm.nih.gov/15184642Test -
4
المؤلفون: F. Reisecker, W. Rosenkranz, G. Radner, Klaus Wagner, F. Leblhuber, R. Lexner
المصدر: Neurology. 44:753-753
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Gene dosage, Nerve conduction velocity, chemistry.chemical_compound, Recurrence, Peripheral nerve, Pressure, Humans, Paralysis, Medicine, Peripheral Nerves, Gene, business.industry, Electrodiagnosis, Myelin sheaths, Peripheral Nervous System Diseases, DNA, Chromosome 17 (human), Microscopy, Electron, chemistry, New mutation, Neurology (clinical), business, Gene Deletion, Polymorphism, Restriction Fragment Length
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41115836e9df622f31240247a7255d3eTest
https://doi.org/10.1212/wnl.44.4.753Test -
5
المصدر: Neurology.
مصطلحات موضوعية: Genetics, Serine C-palmitoyltransferase, Biology, medicine.disease, Pathogenicity, Phenotype, Sphingolipid, New mutation, Mutation (genetic algorithm), Hereditary sensory and autonomic neuropathy, Immunology, medicine, Neurology (clinical), Novel mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6497bb1acb8f9108350ce08734d9811fTest
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6
المؤلفون: Bruce O. Berg, Robert B. Layzer, Donna L. Daentl, Charles J. Epstein
المصدر: Neurology. 24:55-55
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, Pediatrics, medicine.medical_specialty, Weakness, Shoulders, Neural Conduction, Atrophy, Humans, Medicine, Myopathy, Creatine Kinase, Genes, Dominant, Muscle contracture, Arthrogryposis, Arthrogryposis multiplex congenita, Electromyography, business.industry, Muscles, Infant, medicine.disease, Microscopy, Electron, New mutation, Female, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f1b2a05afc75be8d532d0082573135aTest
https://doi.org/10.1212/wnl.24.1.55Test