نتائج البحث - "hereditary spastic paraplegias (HSP)"

مرشدي الرسالة: UAM. Departamento de Anatomía, Histología y Neurociencia, UAM. Departamento de Pediatría, Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ)

المصدر: PLoS ONE 13.3 (2018): e0192345
e0192345-1
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e0192345-28
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مصطلحات موضوعية: Hereditary Spastic Paraplegias (HSP), Phenotypes, Gait analysis (IGA), Random forests, Medicina

URL الوصول: http://hdl.handle.net/10486/682501

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دورية أكاديمية

Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review

المؤلفون: Fang Peng, Yi-Min Sun, Chao Quan, Jian Wang, Jian-Jun Wu

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: Hereditary spastic paraplegias (HSP), Spastic paraplegia 76(SPG76), CAPN1 mutations, Ataxia, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1053-1; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/620c1def2d544750b812461acbd4e768

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دورية أكاديمية

Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review

المؤلفون: Peng, Fang, Sun, Yi-Min, Quan, Chao, Wang, Jian, Wu, Jian-Jun^{Aff1, Aff2}

المصدر: Orphanet Journal of Rare Diseases. 14(1)

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Новая гомозиготная мутация в гене ARL6IP1 - второй случай редкой спастической параплегии

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4a032e49a9b09696de0d8e6e6f434767

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Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review

المؤلفون: Jian-Jun Wu, Yi-Min Sun, Jian Wang, Chao Quan, Fang Peng

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, China, Ataxia, Hereditary spastic paraplegia, lcsh:Medicine, 030105 genetics & heredity, Bioinformatics, Polymerase Chain Reaction, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Asian People, Hereditary spastic paraplegias (HSP), Spastic, medicine, Humans, Pharmacology (medical), CAPN1 mutations, Genetics (clinical), Genetic testing, Retrospective Studies, Sanger sequencing, Cerebellar ataxia, medicine.diagnostic_test, business.industry, Genetic heterogeneity, Spastic paraplegia 76(SPG76), Calpain, Spastic Paraplegia, Hereditary, Research, lcsh:R, General Medicine, Exons, medicine.disease, Pedigree, Mutation, symbols, Female, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bff54e139e579980673edcb4c3075a5b
http://europepmc.org/articles/PMC6482496

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دورية أكاديمية

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Genetic mutation analysis of hereditary spastic paraplegia

المؤلفون: Bo Sun, Fang Cui, Xusheng Huang, Mao Li, Jie Qiao, Jianyong Li, Siyu Chen, Liuqing Sun

المصدر: Medicine

مصطلحات موضوعية: Male, Proband, Sanger sequencing, congenital, hereditary, and neonatal diseases and abnormalities, Hereditary spastic paraplegia, DNA Mutational Analysis, Observational Study, L1CAM gene, hereditary spastic paraplegias (HSP), medicine.disease_cause, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, Spastic, Humans, 030212 general & internal medicine, Gene, Retrospective Studies, Sequence Deletion, Genetic testing, Genetics, Mutation, medicine.diagnostic_test, Spastic Paraplegia, Hereditary, business.industry, Genetic heterogeneity, gene panel sequencing, General Medicine, medicine.disease, Pedigree, nervous system diseases, SPAST gene, 030220 oncology & carcinogenesis, symbols, Female, business, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af2d2076fc730d0fc8422c88137d35f7
https://doi.org/10.1097/md.0000000000020193

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Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests

المؤلفون: Pulido-Valdeolivas, Irene, Gómez-Andrés, David, Martín-Gonzalo, Juan Andrés, Rodríguez-Andonaegui, Irene, López-López, Javier, Pascual-Pascual, Samuel Ignacio, Rausell, Estrella, Universitat Autònoma de Barcelona

المساهمون: UAM. Departamento de Anatomía, Histología y Neurociencia, UAM. Departamento de Pediatría, Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ)

المصدر: PLoS ONE, Vol 13, Iss 3, p e0192345 (2018)
PLoS ONE
Biblos-e Archivo. Repositorio Institucional de la UAM
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Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

مصطلحات موضوعية: Pelvic tilt, Male, Kinematics, Knee Joint, Physiology, Knees, lcsh:Medicine, Walking, Pediatrics, Corpus Callosum, 0302 clinical medicine, Medicine and Health Sciences, Cluster Analysis, Public and Occupational Health, Range of Motion, Articular, Child, lcsh:Science, Musculoskeletal System, Gait, Neurologic Examination, Multidisciplinary, Physics, Child Health, Classical Mechanics, Brain, Biomechanical Phenomena, Phenotypes, medicine.anatomical_structure, Child, Preschool, Physical Sciences, Legs, Female, Anatomy, Gait Analysis, Research Article, musculoskeletal diseases, Dynamic time warping, medicine.medical_specialty, Adolescent, Hereditary spastic paraplegia, Medicina, Sensitivity and Specificity, Pelvis, Hereditary Spastic Paraplegias (HSP), 03 medical and health sciences, Physical medicine and rehabilitation, Gait analysis (IGA), medicine, Humans, Hip, business.industry, Biological Locomotion, Spastic Paraplegia, Hereditary, Limbs (Anatomy), lcsh:R, Ankles, Biology and Life Sciences, 030229 sport sciences, Random forests, medicine.disease, Sagittal plane, Preferred walking speed, Gait analysis, lcsh:Q, Ankle, business, human activities, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::246b0ccd5eef4e7fadd3b268173137d4
https://hdl.handle.net/10486/682501

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