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1
المؤلفون: Sinéad M. Murphy, Henry Houlden, Michael P. Lunn, Mary M. Reilly, Doriette Soler, Michael Donaghy, Mark Roberts, Nicola Foulds, Sebastian Brandner, Hadi Manji, Francesco Muntoni, James M. Polke, Gita Ramdharry, Rita Horvath, Gabrielle L. Davidson, NP Davies, S. Price, Julian Blake, M. A. Mohamed Salih, Matilde Laura, Mary B. Davis
المصدر: Journal of neurology. 259(8)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Mutation rate, Adolescent, Population, Serine C-Palmitoyltransferase, medicine.disease_cause, Article, Cohort Studies, Young Adult, Mutation Rate, Hereditary sensory and autonomic neuropathy, HSN2, Medicine, Humans, SPTLC1, Mutation frequency, Hereditary Sensory and Autonomic Neuropathies, education, Child, Genetics, Mutation, education.field_of_study, business.industry, Genetic heterogeneity, Infant, Newborn, Middle Aged, medicine.disease, United Kingdom, Pedigree, Neurology, Child, Preschool, Female, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce70908bbea4456cc6577d18887afe8fTest
https://pubmed.ncbi.nlm.nih.gov/22302274Test -
2
المؤلفون: Guy A. Rouleau, Patrick A. Dion, Masoud Shekarabi
المصدر: Journal of neurology. 259(3)
مصطلحات موضوعية: Male, medicine.medical_specialty, Neurology, Protein-Serine-Threonine Kinases, business.industry, Intracellular Signaling Peptides and Proteins, Protein Serine-Threonine Kinases, Bioinformatics, medicine.disease, Mutation (genetic algorithm), Hereditary sensory and autonomic neuropathy, Mutation, medicine, HSN2, Humans, Female, Neurology (clinical), Hereditary Sensory and Autonomic Neuropathies, business, Neuroscience, Gene, Novel mutation, Neuroradiology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a1778234c2cc82728764e509e6cccc6Test
https://pubmed.ncbi.nlm.nih.gov/21625937Test -
3
المؤلفون: J. M. Valdés-Miranda, Sergio A. Cuevas-Covarrubias, J. Cazarin-Barrientos, L M González-Huerta, Guillermo Pacheco-Cuellar, H. Peláez-González, S. Zenteno-Bacheron
المصدر: Journal of neurology. 258(10)
مصطلحات موضوعية: Adult, Male, DNA Mutational Analysis, Biology, Protein Serine-Threonine Kinases, medicine.disease_cause, Compound heterozygosity, Minor Histocompatibility Antigens, Exon, Young Adult, WNK Lysine-Deficient Protein Kinase 1, Locus heterogeneity, Hereditary sensory and autonomic neuropathy, medicine, HSN2, Humans, Age of Onset, Hereditary Sensory and Autonomic Neuropathies, Child, Gene, Mexico, Genetics, Mutation, Base Sequence, Intracellular Signaling Peptides and Proteins, Middle Aged, medicine.disease, Stop codon, Pedigree, Neurology, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e23e6edcdaa6940a1a6fde13e8d975b1Test
https://pubmed.ncbi.nlm.nih.gov/21847616Test -
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المؤلفون: Davide Pareyson
المصدر: Journal of neurology. 250(2)
مصطلحات موضوعية: Adult, medicine.medical_specialty, Pathology, Neurology, business.industry, Amyloidosis, Hereditary neuralgic amyotrophy, medicine.disease, Fabry disease, Diagnosis, Differential, Amyloid Neuropathy, Peripheral neuropathy, Degenerative disease, Phenotype, Recurrence, Hereditary sensory and autonomic neuropathy, Acute Disease, medicine, Disease Progression, Humans, Neurology (clinical), Nervous System Diseases, business, Hereditary Sensory and Motor Neuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4919f64f63495e4440623f07251b46caTest
https://pubmed.ncbi.nlm.nih.gov/12574944Test -
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المؤلفون: Robin Kennett, Masud Husain, Jacqueline Palace, Simon Mead, David L.H. Bennett, Andreas C. Themistocleous
المصدر: Journal of Neurology
مصطلحات موضوعية: Pathology, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Cranial nerves, Clinical Neurology, Neurological examination, medicine.disease, Letter to the Editors, PRNP, Amyloid Neuropathy, Peripheral neuropathy, Neurology, Myelin maintenance, Hereditary sensory and autonomic neuropathy, medicine, Neurology (clinical), Cognitive decline, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2471bd8cff422ff264674aa0b3609c2Test