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

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

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 Science

مصطلحات 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

المؤلفون: Henry Houlden, David A. Sweetser, Hesham Aldhalaan, Barry J. Byrne, Bruria Ben-Zeev, Gabriela M. Repetto, Bernt Popp, Yasemin Dincer, Karima Maher, Reza Maroofian, Omar Ismayl, Fowzan S. Alkuraya, Susanna Schubert, Wen-Hann Tan, Jens Meiler, Usha Kini, Parul Jayakar, Fatima Khan, Darius Ebrahimi-Fakhari, Stephanie Efthymiou, Gehad ElGhazali, Mais Hashem, Vijayalakshmi Salem Ramakumaran, Volker Mall, Robert J. Graham, Bat El Bar-Aluma, Maria Cecilia Poli, Rami Abou Jamra, Barbara Brechmann, Asma E. Al Nuaimi, Gali Heimer, Sonja Neuser, Amir Szeinberg, Ines Brösse, Christian Behrends, Angelika Seitz, Mandy Krumbiegel, Jennifer E. Posey, Amal Al Tenaiji, Lauren O’Grady, Michael Zech, Siddharth Srivastava, James R. Lupski, Basil T. Darras, Isabella Herman, Alistair T. Pagnamenta, Juliane Winkelmann, Shahnaz Ibrahim, Yael Haberman, Tatiana Muñoz

مصطلحات موضوعية: Male, Models, Molecular, Ataxia, Adolescent, Protein Conformation, Population, Mutation, Missense, Nerve Tissue Proteins, Neuroimaging, Disease, Biology, Bioinformatics, Cohort Studies, 03 medical and health sciences, Neurodevelopmental disorder, Intellectual Disability, Human Phenotype Ontology, Intellectual disability, Hereditary sensory and autonomic neuropathy, Genetics, medicine, Missense mutation, Humans, Family, Global developmental delay, Hereditary Sensory and Autonomic Neuropathies, education, Child, Genetics (clinical), 030304 developmental biology, education.field_of_study, 0303 health sciences, business.industry, 030305 genetics & heredity, Infant, Hyporeflexia, medicine.disease, Magnetic Resonance Imaging, Pedigree, ddc, Cross-Sectional Studies, Phenotype, Child, Preschool, Female, medicine.symptom, business, Carrier Proteins

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7debe78904c5d1bb78a6c6b3d6d0964Test
https://mediatum.ub.tum.de/doc/1625236/document.pdfTest

المؤلفون: Qin Zhu, Ting Wang, Miao Sun, Qin Zhang, Minjuan Liu, Haibo Li, Jingjing Xiang, Hong Li, Bin Wei

المصدر: The Journal of International Medical Research

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Nonsense mutation, Gene Expression, NTRK1, Bioinformatics, medicine.disease_cause, Biochemistry, Receptor tyrosine kinase, 03 medical and health sciences, Exon, 0302 clinical medicine, Congenital insensitivity to pain with anhidrosis, Internal medicine, medicine, Humans, Hereditary Sensory and Autonomic Neuropathies, Receptor, trkA, Child, Gene, Hypohidrosis, Mutation, biology, business.industry, Siblings, Biochemistry (medical), hereditary sensory and autonomic neuropathy type IV, Research Reports, Cell Biology, General Medicine, Exons, Sequence Analysis, DNA, medicine.disease, Introns, Pedigree, 030104 developmental biology, Endocrinology, biology.protein, Etiology, Self Mutilation, business, 030217 neurology & neurosurgery, Neurotrophin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c54de91ce97bfa9bd7a98c3e4d497956Test
http://europepmc.org/articles/PMC5536645Test

المؤلفون: Mohammad H. Al-Qahtani, Hussein Algahtani, Faisal Boker, Bader Shirah, Shireen Abubakr Abdulrahman, Muhammad Imran Naseer

المصدر: Journal of the Neurological Sciences. 370:35-38

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Saudi Arabia, Tropomyosin receptor kinase A, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Congenital insensitivity to pain with anhidrosis, Tongue, Hereditary sensory and autonomic neuropathy, medicine, Humans, Hereditary Sensory and Autonomic Neuropathies, Receptor, trkA, Anhidrosis, Child, Sanger sequencing, business.industry, Siblings, Incidence (epidemiology), medicine.disease, Dermatology, Pedigree, Surgery, Early Diagnosis, 030104 developmental biology, medicine.anatomical_structure, Neurology, Orthopedic surgery, symbols, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c605749571a2d0acfa00218769939e4Test
https://doi.org/10.1016/j.jns.2016.09.016Test

المؤلفون: Juliette Bacquet, Nathalie Martini, Emmanuelle Salort-Campana, Tanya Stojkovic, Jean-Pierre Desvignes, Annie Verschueren, Valérie Delague, Annabelle Chaussenot, Amandine Boyer, Shahram Attarian, Frédérique Audic, Nicolas Lévy, Emilien Delmont, Brigitte Chabrol, Nathalie Bonello-Palot

المساهمون: Laboratoire de Génétique Moléculaire [Hôpital de la Timone - APHM], Département de génétique médicale [Hôpital de la Timone - APHM], Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Institut de Myologie, Sorbonne Université (SU)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie Pédiatrique, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone [CHU - APHM] (TIMONE), Service de génétique médicale, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: BMJ Open
BMJ Open, BMJ Publishing Group, 2018, 8 (10), pp.e021632. ⟨10.1136/bmjopen-2018-021632⟩
BMJ Open, 2018, 8 (10), pp.e021632. ⟨10.1136/bmjopen-2018-021632⟩

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, inherited peripheral neuropathies, Adolescent, DNA Copy Number Variations, Context (language use), Computational biology, Disease, Polymerase Chain Reaction, DNA sequencing, Cohort Studies, 03 medical and health sciences, symbols.namesake, Young Adult, 0302 clinical medicine, SH3TC2, Hereditary sensory and autonomic neuropathy, medicine, Humans, Copy-number variation, Child, ComputingMilieux_MISCELLANEOUS, Sanger sequencing, next generation sequencing, business.industry, Research, copy number variation, High-Throughput Nucleotide Sequencing, Infant, Peripheral Nervous System Diseases, Genetics and Genomics, General Medicine, Sequence Analysis, DNA, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, Hereditary Diseases, Mutation, symbols, Female, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbcd88fefa66793e82a16f6e95c831d0Test
http://europepmc.org/articles/PMC6224714Test

المؤلفون: Lisa Newsome, Shamit S. Prabhu, Uday N. Reebye, Kevin Fortier

المصدر: Anesthesia progress. 65(3)

مصطلحات موضوعية: 0301 basic medicine, Male, Pain Threshold, Cuspid, Sedation, Administration, Topical, Anesthesia, Dental, Benzocaine, Nitrous Oxide, Context (language use), Case Reports, 03 medical and health sciences, 0302 clinical medicine, Congenital insensitivity to pain with anhidrosis, Hereditary sensory and autonomic neuropathy, Administration, Inhalation, Radiography, Panoramic, Medicine, Humans, Genetic Predisposition to Disease, Anhidrosis, Anesthetics, Local, Hereditary Sensory and Autonomic Neuropathies, Child, business.industry, Perioperative, medicine.disease, 030104 developmental biology, Anesthesiology and Pain Medicine, Phenotype, Treatment Outcome, Ambulatory Surgical Procedures, Anesthesia, Anesthetic, Anesthetics, Inhalation, Tooth Extraction, medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7d053b7f6433e3dda331615ee912840Test
https://pubmed.ncbi.nlm.nih.gov/30235436Test

المؤلفون: Thorsten Hornemann, Irina Alecu, Heiko Bode, Saranya Suriyanarayanan, Arnold von Eckardstein, Florence Bourquin, Yu Wei, Alaa Othman

المصدر: Human Molecular Genetics. 25:853-865

مصطلحات موضوعية: Adult, Models, Molecular, 0301 basic medicine, Mutant, Serine C-Palmitoyltransferase, Gene Expression, Biology, medicine.disease_cause, Severity of Illness Index, Gas Chromatography-Mass Spectrometry, Serine, Structure-Activity Relationship, Young Adult, 03 medical and health sciences, Protein structure, Catalytic Domain, Hereditary sensory and autonomic neuropathy, Genetics, medicine, Humans, Hereditary Sensory and Autonomic Neuropathies, SPTLC1, Child, Molecular Biology, Genetics (clinical), Aged, Principal Component Analysis, Sphingolipids, Mutation, Alanine, Serine C-palmitoyltransferase, General Medicine, Middle Aged, medicine.disease, Phenotype, Recombinant Proteins, HEK293 Cells, 030104 developmental biology, Structural Homology, Protein, Isotope Labeling

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95ecb3b7bfb2b64534f9d51f5fafc9b6Test
https://doi.org/10.1093/hmg/ddv611Test

المؤلفون: Chang-Fu Sun, Xiao-Meng Xue, Pai Pang, Yan-Qing Liu

المصدر: Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons. 76(12)

مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, Osteoporosis, 03 medical and health sciences, 0302 clinical medicine, Congenital insensitivity to pain with anhidrosis, Hereditary sensory and autonomic neuropathy, Medicine, Humans, Abnormalities, Multiple, Anhidrosis, Craniofacial, Hereditary Sensory and Autonomic Neuropathies, Receptor, trkA, Child, Dental alveolus, Permanent teeth, Hypohidrosis, business.industry, Tooth Abnormalities, Mandible, 030206 dentistry, medicine.disease, Dermatology, stomatognathic diseases, Otorhinolaryngology, Surgery, Oral Surgery, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::051c9332abb17741d6676aaabc225104Test
https://pubmed.ncbi.nlm.nih.gov/30075136Test