نتائج البحث - "Hereditary sensory and autonomic neuropathy"

91

Late-onset hereditary sensory and autonomic neuropathy type 2B caused by novel compound heterozygous mutations in FAM134B presenting as chronic recurrent ulcers on the soles

المؤلفون: Zhimiao Lin, Di-Qing Luo, Ying-Ming Chen, Juan-Hua Liu, Yu-Kun Zhao, Ze-Yu Luo, Huijun Wang

المصدر: Indian Journal of Dermatology, Venereology and Leprology. 87:455-455

مصطلحات موضوعية: medicine.medical_specialty, Infectious Diseases, business.industry, Hereditary sensory and autonomic neuropathy, medicine, Late onset, Dermatology, Compound heterozygosity, medicine.disease, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1dc065c8e0c22607cbde4f1a6512f456Test
https://doi.org/10.25259/ijdvl_519_20Test

92

WNK1/HSN2founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study

المؤلفون: Susumu Kusunoki, Akira Taniguchi, Masahiro Ando, Masanori P. Takahashi, Akihiro Hashiguchi, Norio Sakai, Hiroshi Takashima, Akiko Yoshimura, Takehiro Ueda, Yuji Okamoto, Yuki Yamamoto, Sayaka Okamoto, Yu Hiramatsu, Kazumasa Saigoh, Nobuo Kanazawa, Junhui Yuan

المصدر: Clinical Genetics. 92:659-663

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, medicine.medical_specialty, Gene Expression, Compound heterozygosity, Frameshift mutation, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Asian People, WNK Lysine-Deficient Protein Kinase 1, Internal medicine, Hereditary sensory and autonomic neuropathy, Genetics, HSN2, medicine, Humans, Age of Onset, Hereditary Sensory and Autonomic Neuropathies, Frameshift Mutation, Genetics (clinical), Aged, business.industry, Homozygote, Haplotype, Middle Aged, medicine.disease, Founder Effect, 030104 developmental biology, Haplotypes, Codon, Nonsense, Mutation (genetic algorithm), Female, Age of onset, business, 030217 neurology & neurosurgery, Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3aa6fe9ef03a55d26ab668f45fc41dfTest
https://doi.org/10.1111/cge.13037Test

93

Animal and cellular models of familial dysautonomia

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

المصدر: Clin Auton Res

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

94

Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis

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

95

A saposin deficiency model in Drosophila : Lysosomal storage, progressive neurodegeneration and sensory physiological decline

المؤلفون: Dominik Schwudke, Christopher J. H. Elliott, Sean T. Sweeney, Samantha Hindle, Sarita Hebbar

المصدر: Neurobiology of Disease, Vol 98, Iss, Pp 77-87 (2017)
Neurobiology of Disease

مصطلحات موضوعية: 0301 basic medicine, Aging, Lysosomal Storage Diseases, Nervous System, Cellular pathology, Prosaposin deficiency, Mutant, Lysosomal storage disease, Antiporters, Saposins, Animals, Genetically Modified, 0302 clinical medicine, Sphingosine, Drosophila Proteins, Homeostasis, GFP, green fluorescent protein, Neurons, Brain, Neurodegenerative Diseases, ERG, electroretinograms, 3. Good health, Cell biology, Drosophila melanogaster, Phenotype, PSAP, prosaposin, Neurology, HSAN1, hereditary sensory and autonomic neuropathy type 1, MVB, multivesicular body, MLB, multilamellar body, Saposin, Drosophila, Neuroglia, chemistry.chemical_element, Sensory system, Progressive neurodegeneration, Calcium, Biology, Ceramides, Article, lcsh:RC321-571, 03 medical and health sciences, Animals, LSD, lysosomal storage disease, NPC, Niemann-Pick type C, Neurodegeneration, TEM, transmission electron microscopy, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Calcium metabolism, Sphingolipids, Activator (genetics), RT-PCR, reverse transcription PCR, Survival Analysis, Sphingolipid, Disease Models, Animal, 030104 developmental biology, chemistry, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11889ee001ce34295528f3cb25dcc361Test
https://doi.org/10.1016/j.nbd.2016.11.012Test

96

Charcot spinal arthropathy in patients with congenital insensitivity to pain: a report of two cases and review of the literature

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

97

A case of hereditary sensory and autonomic neuropathy type 1E with frontal lobe dysfunction as an initial symptom

المؤلفون: Kensho Okamoto, Toshiki Mizuno, Yushi Matsumoto, Ikuko Mizuta, Bungo Okuda, Masashi Watanabe

المصدر: Rinsho Shinkeigaku. 57:753-758

مصطلحات موضوعية: DNA (Cytosine-5-)-Methyltransferase 1, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Ataxia, Prion Proteins, Progressive supranuclear palsy, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Hereditary sensory and autonomic neuropathy, Humans, Medicine, Hereditary Sensory and Autonomic Neuropathies, Cerebral atrophy, Palsy, medicine.diagnostic_test, business.industry, Brain, Middle Aged, medicine.disease, Frontal Lobe, 030104 developmental biology, medicine.anatomical_structure, Frontal lobe, Anesthesia, Mutation, Nerve conduction study, Supranuclear Palsy, Progressive, Neurology (clinical), Atrophy, medicine.symptom, business, 030217 neurology & neurosurgery, Sensory nerve

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07947367d66f4755532235e0a975dae8Test
https://doi.org/10.5692/clinicalneurol.cn-001043Test

98

Localization of 1-deoxysphingolipids to mitochondria induces mitochondrial dysfunction

المؤلفون: Ashraf Al-Amoudi, Christoph Thiele, Frank Bradke, Anne Gaebler, Christian Lamberz, Andrea Tedeschi, Thorsten Hornemann, Irina Alecu, Klaus Wunderling, Mario A. Lauterbach, Alaa Othman, Paul P. Van Veldhoven, Anke Penno, Lars Kuerschner, Eicke Latz, Natascha Behler, Daniela Ernst

المساهمون: University of Zurich, Penno, Anke

المصدر: Journal of Lipid Research, Vol 58, Iss 1, Pp 42-59 (2017)
Journal of lipid research 58(1), 42-59 (2016). doi:10.1194/jlr.M068676

مصطلحات موضوعية: Male, 0301 basic medicine, 1303 Biochemistry, Diabetic neuropathy, blood [Diabetes Mellitus, Type 2], pathology [Peripheral Nerves], neurons, Mitochondrion, Biochemistry, pathology [Mitochondria], metabolism [Peripheral Nerves], 1307 Cell Biology, Endocrinology, Diabetic Neuropathies, 540 Chemistry, Hereditary sensory and autonomic neuropathy, blood [Lipids], Hereditary Sensory and Autonomic Neuropathies, Research Articles, 10038 Institute of Clinical Chemistry, pharmacology [Sphingolipids], diabetes, Chemistry, lipids/chemistry, drug effects [Mitochondria], blood [Sphingolipids], pathology [Diabetic Neuropathies], Lipids, Mitochondria, 1310 Endocrinology, 3. Good health, Mitochondrial toxicity, ddc:540, Oxidoreductases, metabolism [Oxidoreductases], medicine.medical_specialty, pathology [Hereditary Sensory and Autonomic Neuropathies], pathology [Diabetes Mellitus, Type 2], 610 Medicine & health, inborn errors of metabolism, QD415-436, 03 medical and health sciences, Internal medicine, medicine, Animals, Humans, Peripheral Nerves, Sphingolipids, sphingolipids, blood [Hereditary Sensory and Autonomic Neuropathies], Neurotoxicity, Cell Biology, Metabolism, metabolism [Mitochondria], medicine.disease, Sphingolipid, chemical synthesis [Sphingolipids], 030104 developmental biology, Peripheral neuropathy, Diabetes Mellitus, Type 2, dihydroceramide desaturase, blood [Diabetic Neuropathies], chemical synthesis

وصف الملف: Print-Electronic; application/pdf; 42full.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe1f4d8a40b8aec71587cce2db32ed84Test
https://doi.org/10.1194/jlr.m068676Test

99

Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family

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

100

A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency

المؤلفون: Robin Fox, David P. Gow, Helen Murphy, John Ealing, David Gosal

المصدر: Journal of the Peripheral Nervous System. 21:150-153

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b3065334f936a1fed264ac631604a551Test
https://doi.org/10.1111/jns.12178Test

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