المؤلفون: Shoji Tsuji, Tatsuo Mano, Toshihiro Hayashi, Hiroyuki Ishiura, Shotaro Karino, Yaeko Ichikawa, Yu Nagashima, Jun Goto, Yuji Takahashi, Takashi Matsukawa, Takashi Kanbayashi, Jun Shimizu, Jun Ichi Kira, Junko Kanda Kikuchi

المصدر: Journal of Molecular Neuroscience. 71:1796-1801

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, Neurology, Cerebellar ataxia, urogenital system, business.industry, General Medicine, medicine.disease, environment and public health, Phenotype, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Peripheral neuropathy, Autosomal dominant cerebellar ataxia, embryonic structures, Hereditary sensory and autonomic neuropathy, medicine, Neurochemistry, medicine.symptom, business, 030217 neurology & neurosurgery, Narcolepsy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e58f02440e7f80069f06e01e5f471bb5Test
https://doi.org/10.1007/s12031-020-01784-5Test

المؤلفون: John B. Vincent, Ricardo Harripaul, Matloob Azam, Stephen Pastore

المصدر: Journal of Human Genetics. 65:493-496

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, 030105 genetics & heredity, Biology, medicine.disease, medicine.disease_cause, 3. Good health, 03 medical and health sciences, Exon, 030104 developmental biology, Hereditary sensory and autonomic neuropathy, medicine, Allele, Congenital Pain Insensitivity, Genotyping, Genetics (clinical), Exome sequencing, Congenital insensitivity to pain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fcb8b7f5521ff51d435081b3baf204a7Test
https://doi.org/10.1038/s10038-020-0734-xTest

المؤلفون: Lejla Mulahasanovic, Konstanze Hörtnagel, Anja Schirmacher, Thorsten Hornemann, Arnold von Eckardstein, Saskia Biskup, Bianca Dräger, Saranya Suriyanarayanan, Peter Young, Museer A. Lone, Alaa Othman

المساهمون: University of Zurich, Suriyanarayanan, Saranya

المصدر: NeuroMolecular Medicine. 21:182-191

مصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Protein Conformation, Cell, Mutant, Mutation, Missense, Serine C-Palmitoyltransferase, 2804 Cellular and Molecular Neuroscience, 610 Medicine & health, Biology, medicine.disease_cause, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Consensus Sequence, 540 Chemistry, Hereditary sensory and autonomic neuropathy, medicine, Humans, Point Mutation, Amino Acid Sequence, Hereditary Sensory and Autonomic Neuropathies, Retrospective Studies, 10038 Institute of Clinical Chemistry, Sphingolipids, Mutation, Alanine, Sequence Homology, Amino Acid, Serine C-palmitoyltransferase, HEK 293 cells, High-Throughput Nucleotide Sequencing, medicine.disease, Sphingolipid, Molecular biology, Phenotype, Pedigree, HEK293 Cells, 030104 developmental biology, medicine.anatomical_structure, Neurology, 1313 Molecular Medicine, 2808 Neurology, Molecular Medicine, Female, Sequence Alignment, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af4c641f3bdecafcb676603eea48fac8Test
https://doi.org/10.1007/s12017-019-08534-wTest

المؤلفون: Frances Lefcort, Yumi Ueki, Lynn George, Sarah B. Ohlen, Marc Mergy

المصدر: Clin Auton Res

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Neurology, Central nervous system, Neural degeneration, Article, Mice, 03 medical and health sciences, 0302 clinical medicine, Hereditary sensory and autonomic neuropathy, Dysautonomia, Familial, medicine, Animals, Humans, Amyotrophic lateral sclerosis, IKBKAP, Endocrine and Autonomic Systems, business.industry, Stem Cells, medicine.disease, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Familial dysautonomia, Neurology (clinical), business, Neural development, Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7234071500e677d8c97e52d3aadc21c8Test
https://doi.org/10.1007/s10286-017-0438-2Test

المؤلفون: Michael D. Staudt, Christopher S. Bailey, Fawaz Siddiqi

المصدر: Neurosurgical Review. 41:899-908

مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, medicine.medical_specialty, Pain Insensitivity, Congenital, Decompression, Neurosurgical Procedures, 03 medical and health sciences, 0302 clinical medicine, Lumbar, Arthropathy, Hereditary sensory and autonomic neuropathy, medicine, Deformity, Humans, 030212 general & internal medicine, Mobility Limitation, Muscle Weakness, business.industry, General Medicine, medicine.disease, Magnetic Resonance Imaging, Spine, Surgery, Spinal Fusion, Disease Progression, Female, Neurology (clinical), Neurosurgery, Arthropathy, Neurogenic, medicine.symptom, Presentation (obstetrics), business, 030217 neurology & neurosurgery, Congenital insensitivity to pain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb38ab0b4db381c9ae4cd6e44a95271cTest
https://doi.org/10.1007/s10143-017-0814-3Test

المؤلفون: Pedro Coelho, Miguel Oliveira Santos

المصدر: Neurological Sciences. 41:1289-1290

مصطلحات موضوعية: medicine.medical_specialty, Neurology, business.industry, DNMT3A Gene, Dermatology, General Medicine, Bioinformatics, medicine.disease, language.human_language, Psychiatry and Mental health, Hereditary sensory and autonomic neuropathy, language, Medicine, Neurology (clinical), Neurosurgery, Portuguese, business, Novel mutation, Neuroradiology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::269661e1ac28473319882238bda32a6dTest
https://doi.org/10.1007/s10072-019-04179-6Test

المؤلفون: R. Prashanth, G. C. Rajkumar, D. P. Ashwin, K. B. Rudresh, G. D. Chandan, Handa Kaur Jasleen

المصدر: Oral and Maxillofacial Surgery. 19:117-123

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Adolescent, Pain Insensitivity, Congenital, Genes, Recessive, Tongue, Hereditary sensory and autonomic neuropathy, medicine, Humans, Peripheral Nerves, Hereditary Sensory and Autonomic Neuropathies, Anhidrosis, Child, Retrospective Studies, Chromosome Aberrations, business.industry, Retrospective cohort study, medicine.disease, Dermatology, Peripheral, stomatognathic diseases, Early Diagnosis, Phenotype, medicine.anatomical_structure, Peripheral neuropathy, Otorhinolaryngology, Child, Preschool, Self Mutilation, Oral and maxillofacial surgery, Surgery, Oral Surgery, medicine.symptom, business, Congenital insensitivity to pain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cb0fbc12baabf8082c1c8cbb7e4962bTest
https://doi.org/10.1007/s10006-015-0486-5Test

المؤلفون: Dennis J. Hulme, Garth A. Nicholson, Michaela Auer-Grumbach, Sonal Brahmbhatt, Jennifer L. Dawkins

المصدر: Nature Genetics. 27:309-312

مصطلحات موضوعية: Molecular Sequence Data, Serine C-Palmitoyltransferase, Apoptosis, Chromosome 9, Neural degeneration, Locus (genetics), Biology, Glucosylceramides, Exon, Hereditary sensory and autonomic neuropathy type I, Hereditary sensory and autonomic neuropathy, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Hereditary Sensory and Autonomic Neuropathies, SPTLC1, DNA Primers, Base Sequence, Sequence Homology, Amino Acid, Chromosome Mapping, Exons, medicine.disease, Protein Subunits, Mutation, Chromosomes, Human, Pair 9, Acyltransferases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a3fb32d00b5e80ab71dde8d1b12c7d7Test
https://doi.org/10.1038/85879Test

المؤلفون: Emeline Mundwiller, Bat-El Zimmerman, Israela Lerer, Hamid Azzedine, Gabor Gyapay, Stephan Klebe, Vincent Meyer, Wassila Carpentier, Alexander Lossos, Agnès Rastetter, Elodie Martin, Laurent Orlando, Alexis Brice, Moriya Gamliel, Cecilia Marelli, Alexandra Durr, Magdalena Nawara, Ruth Sheffer, Marion Gaussen, Delphine Bouteiller, Khalid H. El-Hachimi, Giovanni Stevanin, Adel Misk

المساهمون: Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC), Service de génétique, cytogénétique, embryologie [Pitié-Salpétrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Hadassah Hebrew University Medical Center [Jerusalem], Plateforme Post-génomique de la Pitié-Salpêtrière (P3S), UMS omique (OMIQUE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Genoscope - Centre national de séquençage [Evry] (GENOSCOPE), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique, cytogénétique, embryologie [CHU Pitié-Salpétrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Gestionnaire, Hal Sorbonne Université

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2012, 20 (6), pp.645-649. ⟨10.1038/ejhg.2011.261⟩
European Journal of Human Genetics, 2012, 20 (6), pp.645-649. ⟨10.1038/ejhg.2011.261⟩

مصطلحات موضوعية: [SDV]Life Sciences [q-bio], Mutation, Missense, Kinesins, Genes, Recessive, Biology, medicine.disease_cause, Article, Genetic Heterogeneity, 03 medical and health sciences, 0302 clinical medicine, Genetic linkage, Hereditary sensory and autonomic neuropathy, Genetics, medicine, Humans, Missense mutation, Family, Genetics (clinical), 030304 developmental biology, KIF1A, 0303 health sciences, Mutation, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Spastic Paraplegia, Hereditary, Genetic heterogeneity, Homozygote, Chromosome Mapping, medicine.disease, Pedigree, 3. Good health, [SDV] Life Sciences [q-bio], Phenotype, Chromosomes, Human, Pair 2, Chromosomal region, Candidate Gene Analysis, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b55a9c044742b29eb93c172ef45b149Test
https://doi.org/10.1038/ejhg.2011.261Test

المؤلفون: Richard P. Lifton, Matthew W. State, Christopher E. Mason, Yasar Bayri, Fatih Bayrakli, Ali K. Ozturk, Murat Gunel, Cengiz Yalcinkaya, Baris Korkmaz, Kaya Bilguvar, Elif Ozdamar, Michael L. DiLuna, Beyhan Tüysüz, Aysegul Bursali

المصدر: Neurogenetics. 9:119-125

مصطلحات موضوعية: Male, Turkey, DNA Mutational Analysis, Population, Nonsense mutation, Single-nucleotide polymorphism, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Frameshift mutation, Consanguinity, Cellular and Molecular Neuroscience, Congenital insensitivity to pain with anhidrosis, Hereditary sensory and autonomic neuropathy, Genetics, medicine, Humans, Hereditary Sensory and Autonomic Neuropathies, Receptor, trkA, Child, education, Genetics (clinical), education.field_of_study, Mutation, Base Sequence, Haplotype, Brain, medicine.disease, Magnetic Resonance Imaging, Founder Effect, Pedigree, Haplotypes, Child, Preschool, Female, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d280146b627c5cd0fc2aa3b49ec0e7a5Test
https://doi.org/10.1007/s10048-008-0121-9Test