-
1
المؤلفون: Junling Wang, Wanqian Cao, Zhengmao Hu, Jifeng Guo, Lei Liu, Siwei Huang, Zhiqiang Lin, Huadong Zhao, Binghao Wang, Ruxu Zhang, Mengli Wang, Hong Jiang, Bei-Sha Tang, Xiaobo Li, Xiying Zhu, Shunxiang Huang, Lu Li, Honglan Yang, Lu Shen, Stephan Züchner, Sen Zeng, Yongzhi Xie
المصدر: European Journal of Neurology. 28:3774-3783
مصطلحات موضوعية: China, medicine.medical_specialty, Genotype, business.industry, medicine.disease, DNA-Binding Proteins, Phenotype, Genotype-phenotype distinction, Neurology, Charcot-Marie-Tooth Disease, Internal medicine, SH3TC2, Gene duplication, Hereditary sensory and autonomic neuropathy, Humans, Medicine, Missense mutation, Neurology (clinical), SPTLC1, Apoptosis Regulatory Proteins, business, Exome sequencing, Adaptor Proteins, Signal Transducing, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80d15321796ba2c51eb2f8e35475565aTest
https://doi.org/10.1111/ene.15024Test -
2
المؤلفون: Philippe Corcia, Julien Cassereau, Pascal Reynier
المصدر: Trends in Endocrinology & Metabolism. 32:839-841
مصطلحات موضوعية: Sphingolipids, Messenger RNA, business.industry, Endocrinology, Diabetes and Metabolism, Amyotrophic Lateral Sclerosis, Mutant allele, medicine.disease, Sphingolipid biosynthesis, Sphingolipid, Endocrinology, Hereditary sensory and autonomic neuropathy, SPTLC1 Gene, Cancer research, Humans, Medicine, Personalized medicine, Hereditary Sensory and Autonomic Neuropathies, Precision Medicine, Amyotrophic lateral sclerosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5368db4d213faf0938ed412baa052f0Test
https://doi.org/10.1016/j.tem.2021.07.002Test -
3
المؤلفون: Henk Giele, Michelle Spiteri, Thomas Azzopardi, Maximillian Mifsud
المصدر: Hand (N Y)
مصطلحات موضوعية: Wrist Joint, medicine.medical_specialty, Pain Insensitivity, Congenital, medicine.medical_treatment, Wrist, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Hereditary sensory and autonomic neuropathy, medicine, Humans, Orthopedics and Sports Medicine, Hereditary Sensory and Autonomic Neuropathies, Anhidrosis, Child, Surgery Articles, Hypohidrosis, Proprioception, business.industry, Osteomyelitis, medicine.disease, Surgery, medicine.anatomical_structure, Amputation, medicine.symptom, business, Interphalangeal Joint, 030217 neurology & neurosurgery, Congenital insensitivity to pain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f84e1860f3e8c9b4b58cbf544267d902Test
https://doi.org/10.1177/1558944720906556Test -
4
المؤلفون: Eyad M. Bintareef, Mohammed ALBashtawy, Omar M. Hanatleh, Samah K. Aburahma, Ali M. Ibnian, Abdullah Alkhawaldeh, Noran K. Kofahi
المصدر: The American Journal of Case Reports
مصطلحات موضوعية: medicine.medical_specialty, Pain Insensitivity, Congenital, media_common.quotation_subject, Pain, Context (language use), NTRK1 Protein, Human, Congenital insensitivity to pain with anhidrosis, Hereditary sensory and autonomic neuropathy, medicine, Humans, Receptor, trkA, Hereditary Sensory and Autonomic Neuropathies, Anhidrosis, Child, media_common, Hypohidrosis, Daughter, Wound dehiscence, business.industry, Articles, General Medicine, medicine.disease, Arabs, Surgery, Child, Preschool, Orthopedic surgery, Manipulation, Orthopedic, Female, medicine.symptom, business, Congenital insensitivity to pain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5d298aebe7d4aa7bb5276c4c72fdc90Test
https://doi.org/10.12659/ajcr.933486Test -
5
المؤلفون: Florian P. Thomas, Carsten G. Bönnemann, Zoe Piccus, Aliza Zidell, Ana Lucila Moreira, Matthew Nalls, S. Neuhaus, Mark A. Tarnopolsky, Helio Pedro, Fernando Kok, Eric Mittelmann, Kenneth Gable, Lauren Brady, Chamindra G. Konersman, Teresa M. Dunn, Anne M. Connolly, Alessandro Introna, Katherine R. Chao, Robert H. Brown, Tracy Brandt, Sabine Specht, Thorsten Hornemann, Museer A. Lone, Alec R. Nickolls, Volker Straub, Andreas Roos, Ahmet Hoke, Giancarlo Logroscino, Chiara Fiorillo, Claire E. Le Pichon, Chia-Hsueh Lee, Cindy V. Ly, A. Reghan Foley, Dimah Saade, Megan T. Cho, Sita D. Gupta, Ying Hu, Payam Mohassel, Andrea Gangfuß, Heike Kölbel, Christopher Grunseich, Jonas Alex Morales Saute, Sandra Donkervoort, Ana Töpf, Ulrike Schara, Naemeh Pourshafie
المصدر: Nat Med
Nature Medicine
Web of Scienceمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Alleles, Amino Acid Sequence, Amyotrophic Lateral Sclerosis, CRISPR-Cas Systems, Child, Female, Genes, Dominant, HEK293 Cells, Humans, Middle Aged, Mutation, Serine C-Palmitoyltransferase, Sphingolipids, Young Adult, Medizin, Biology, General Biochemistry, Genetics and Molecular Biology, Article, Serine, Cellular and Molecular Neuroscience, 03 medical and health sciences, Text mining, 0302 clinical medicine, Hereditary sensory and autonomic neuropathy, medicine, Dominant, SPTLC1, Allele, Amyotrophic lateral sclerosis, Genetics, business.industry, Mechanism (biology), Serine C-palmitoyltransferase, General Medicine, Motor neuron, medicine.disease, Sphingolipid, 030104 developmental biology, medicine.anatomical_structure, Genes, 030220 oncology & carcinogenesis, Neurology (clinical), business, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3193b2001356b95896ddd8445463da1bTest
https://pubmed.ncbi.nlm.nih.gov/34059824Test -
6
المؤلفون: Simona Capsoni, Giovanna Testa, Antonino Cattaneo
المساهمون: Testa, Giovanna, Cattaneo, Antonino, Capsoni, Simona
المصدر: Pharmacological research. 169
مصطلحات موضوعية: 0301 basic medicine, Nervous system, Nociception, NTR, Pain, Socio-culturale, Disease, Tropomyosin receptor kinase A, medicine.disease_cause, Settore BIO/09 - Fisiologia, 03 medical and health sciences, 0302 clinical medicine, Nerve growth factor, Hereditary sensory and autonomic neuropathy, Nerve Growth Factor, Medicine, Animals, Humans, Hereditary Sensory and Autonomic Neuropathies, Protein Precursors, Pharmacology, Mutation, P75, biology, business.industry, TrkA, Pain Perception, medicine.disease, P75(NTR), Hereditary sensory and autonomic neuropathie, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, biology.protein, Congenital Pain Insensitivity, business, Neuroscience, Neurotrophin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cab7ebe0ed35ec6a7a8724cef147408fTest
https://pubmed.ncbi.nlm.nih.gov/34000361Test -
7
المؤلفون: Theodosia Bartzela, Luitgard Graul-Neumann, Christian Finke, Karim Elhennawy, Paul-Georg Jost-Brinkmann, Seif Reda
المصدر: Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-11 (2017)
Journal of Medical Case Reportsمصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Orthotic Devices, Time Factors, Adolescent, Pain Insensitivity, Congenital, DNA Mutational Analysis, lcsh:Medicine, Nerve Tissue Proteins, Disease, Dental Caries, medicine.disease_cause, Bone Infection, 03 medical and health sciences, Tooth Loss, 0302 clinical medicine, PRDM12 gene, Surgical oncology, Hereditary sensory and autonomic neuropathy type I, Hereditary sensory and autonomic neuropathy, Case report, medicine, Tooth loss, Humans, Genetic Predisposition to Disease, Oral manifestations, Hereditary Sensory and Autonomic Neuropathies, Mobility Limitation, Mutation, business.industry, lcsh:R, Mouth Mucosa, Infant, 030206 dentistry, General Medicine, medicine.disease, Dermatology, Orthotic device, Self Mutilation, Denture, Partial, Fixed, Dental, HSAN-VIII, medicine.symptom, business, Carrier Proteins, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a64c27b39eca10abc59fe23f7ab9bb5Test
http://link.springer.com/article/10.1186/s13256-017-1387-zTest -
8
المؤلفون: Kin Yip Tam, Anbing Shi, Bin Liang, Xuanjun Zhang, Hongjie Zhang, Verena Gobel, Rong Ying, Xue Jiang, Mengqiao Cui, Jun Zheng, Gang Li
المصدر: The Journal of Neuroscience. 39:5816-5834
مصطلحات موضوعية: 0301 basic medicine, Mutant, Biology, Neuroprotection, Glycosphingolipids, Animals, Genetically Modified, 03 medical and health sciences, 0302 clinical medicine, Hereditary sensory and autonomic neuropathy, medicine, Animals, Humans, Hereditary Sensory and Autonomic Neuropathies, Caenorhabditis elegans, Research Articles, Epithelial polarity, Neurons, Base Sequence, General Neuroscience, Serine C-palmitoyltransferase, Cell Polarity, medicine.disease, biology.organism_classification, Phenotype, Sphingolipid, Cell biology, Disease Models, Animal, 030104 developmental biology, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aae5c7f1c290cf56782cad2121ee9df7Test
https://doi.org/10.1523/jneurosci.2541-18.2019Test -
9
المصدر: Auton Neurosci
مصطلحات موضوعية: Bradycardia, medicine.medical_specialty, Sudden death, Article, Death, Sudden, 03 medical and health sciences, Cellular and Molecular Neuroscience, Sleep Apnea Syndromes, 0302 clinical medicine, Risk Factors, Internal medicine, Hereditary sensory and autonomic neuropathy, Dysautonomia, Familial, Humans, Medicine, Carotid Body, Endocrine and Autonomic Systems, business.industry, Dysautonomia, Sleep apnea, medicine.disease, Sleep Apnea, Central, Chemoreceptor Cells, Hypoventilation, Familial dysautonomia, Cardiology, Neurology (clinical), medicine.symptom, business, Hypercapnia, 030217 neurology & neurosurgery, Brain Stem
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1ce916e628e10d74c3db89566036525Test
https://doi.org/10.1016/j.autneu.2019.02.003Test -
10
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
