نتائج البحث - "Hereditary sensory and autonomic neuropathy"

1

Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias

المؤلفون: Carolyn M. Sue, Garth A. Nicholson, Con Yiannikas, James D Triplett, Thorsten Hornemann

المصدر: Journal of the Peripheral Nervous System. 24:224-229

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2926ac9faa403d623b7bd1eb36775208Test
https://doi.org/10.1111/jns.12315Test

2

A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain

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

3

113 Clinical and neurophysiological improvement in Hereditary sensory and autonomic neuropathy type I (HSAN-1) following high dose serine therapy

المؤلفون: Garth A. Nicholson, Con Yiannikas, James D Triplett

المصدر: BMJ Neurology Open, Vol 3, Iss Suppl 1 (2021)

مصطلحات موضوعية: Mutation, Weakness, business.industry, Sensory system, Neurosciences. Biological psychiatry. Neuropsychiatry, medicine.disease, medicine.disease_cause, Sphingolipid, Serine, medicine.anatomical_structure, Hereditary sensory and autonomic neuropathy type I, Anesthesia, medicine, medicine.symptom, Ulnar nerve, business, Sensory nerve, RC321-571

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffcfc26d9f83ef3ec643f9a5e760e0a2Test
https://doaj.org/article/dcfb4d03f36746c98aa17695107cd0a5Test

4

Novel genetic form of amyotrophic lateral sclerosis reveals metabolic mechanism and therapeutic target

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

5

Understanding pain perception through genetic painlessness diseases: The role of NGF and proNGF

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

6

Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature

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 Reports

مصطلحات 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

7

A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C

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

8

Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5

المؤلفون: Chee Keong Kwok, Lisa Henkel, Katharina Klug, Nurcan Üçeyler, Eva Klopocki, Thomas Klein

المصدر: Stem Cell Research, Vol 33, Iss, Pp 171-174 (2018)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e26f4a01c987af270252124ef3a7900Test
https://doi.org/10.1016/j.scr.2018.10.017Test

9

Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE

المؤلفون: Rongni He, Wei Huang, Aiqun Lin, Yaowei Huang, Victor Wei Zhang, Yuying Su, Huifang Xie, Zhenxing Yan, Shaoyuan Li, Wenxia Zheng

المصدر: BMC Neurology, Vol 18, Iss 1, Pp 1-4 (2018)
BMC Neurology

مصطلحات موضوعية: 0301 basic medicine, Adult, DNA (Cytosine-5-)-Methyltransferase 1, Exome sequencing, medicine.medical_specialty, Cerebellar Ataxia, Case Report, lcsh:RC346-429, 03 medical and health sciences, Exon, HSAN1E, 0302 clinical medicine, Autosomal dominant cerebellar ataxia, Molecular genetics, Hereditary sensory and autonomic neuropathy, medicine, Humans, Hereditary Sensory and Autonomic Neuropathies, lcsh:Neurology. Diseases of the nervous system, Genetics, Cerebellar ataxia, business.industry, DNMT1, General Medicine, Exons, DNA Methylation, medicine.disease, 030104 developmental biology, Phenotype, DNA methylation, Mutation, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7d18b843906ee5b08ca04dcf299a010Test
http://link.springer.com/article/10.1186/s12883-018-1177-2Test

10

Characterization of gastrointestinal pathologies in the dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI

المؤلفون: Yves De Repentigny, James Butcher, Sabrina Gagnon, Rashmi Kothary, Anisha Lynch-Godrei, Alain Stintzi, Rebecca A. Yaworski, Juliana Manoogian

المصدر: Neurogastroenterology & Motility. 32

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Ataxia, Dystonin, Physiology, Enteric Nervous System, Mice, 03 medical and health sciences, 0302 clinical medicine, Dorsal root ganglion, Hereditary sensory and autonomic neuropathy, medicine, Animals, Hereditary Sensory and Autonomic Neuropathies, Dystonia, Endocrine and Autonomic Systems, business.industry, Neurodegeneration, Gastroenterology, medicine.disease, Mice, Mutant Strains, Gastrointestinal Microbiome, 3. Good health, Gastrointestinal Tract, Mice, Inbred C57BL, Disease Models, Animal, Autonomic nervous system, 030104 developmental biology, medicine.anatomical_structure, Mutation, Enteric nervous system, medicine.symptom, business, human activities, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f4c32b1f76ab2b70b9b74a12e63ce3aTest
https://doi.org/10.1111/nmo.13773Test

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