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المؤلفون: Grace McMacken, Robert Muni-Lofra, Sandra Moreira, Hanns Lochmüller, Michela Guglieri, Geraldine Bailey, Maggie Williams, Anna Mayhew, Gail Eglon, Debbie Smith, Volker Straub, Teresinha Evangelista, Libby Wood, Chiara Marini-Bettolo
المصدر: Journal of Neurology
مصطلحات موضوعية: 0301 basic medicine, Spirometry, Adult, Male, medicine.medical_specialty, Vital capacity, Statistics as Topic, Vital Capacity, macromolecular substances, 030105 genetics & heredity, Facioscapulohumeral dystrophy, Severity of Illness Index, Pulmonary function testing, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, Internal medicine, Severity of illness, medicine, Facioscapulohumeral muscular dystrophy, Humans, Respiratory system, Aged, Original Communication, medicine.diagnostic_test, business.industry, Restrictive lung function, Middle Aged, medicine.disease, Respiration Disorders, Muscular Dystrophy, Facioscapulohumeral, 3. Good health, Respiratory Function Tests, Neurology, Respiratory impairment, Physical therapy, Breathing, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3601d11b82804540bb3ec0d5b1cc76a1Test
http://europepmc.org/articles/PMC5486574Test -
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المؤلفون: Lynn Rochester, Sue Lord, Brook Galna, Patrick F. Chinnery, Dadirayi Mhiripiri, Gail Eglon
المصدر: Movement Disorders. 29:252-255
مصطلحات موضوعية: medicine.medical_specialty, Ataxia, Gait Disturbance, medicine.disease, Physical medicine and rehabilitation, Gait (human), Gait impairment, Neurology, Disease severity, Gait analysis, medicine, Gait Ataxia, Physical therapy, Spinocerebellar ataxia type 6, Neurology (clinical), medicine.symptom, Psychology, human activities
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f36fe493c896b2baa8e284246a4a70edTest
https://doi.org/10.1002/mds.25706Test -
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المؤلفون: Rita Horvath, Gail Eglon, David Bargiela, Patrick F. Chinnery
المصدر: Practical Neurology. 14:182-184
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, business.industry, Neurogenetics, Spastic paraparesis, General Medicine, Middle Aged, ATP Binding Cassette Transporter, Subfamily D, Member 1, Article, Pedigree, Mutation, Paraparesis, Spastic, Physical therapy, Humans, Medicine, ATP-Binding Cassette Transporters, Female, Neurology (clinical), Metabolic disease, business, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02a52781f83d2ad24d4db79fda93f5cfTest
https://doi.org/10.1136/practneurol-2013-000662Test -
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المؤلفون: Daniyal, Daud, Helen, Griffin, Konstantinos, Douroudis, Stephanie, Kleinle, Gail, Eglon, Angela, Pyle, Patrick F, Chinnery, Rita, Horvath
المصدر: Journal of Neurology
مصطلحات موضوعية: Male, Movement Disorders, Original Communication, Spastic paraplegia, Whole exome sequencing, Kinesins, Dynactin Complex, Sequence Analysis, DNA, Sciatica, Basal Ganglia Diseases, Back Pain, Neurofilament Proteins, Mutation, Disease Progression, Genetics, Motor neuropathy, Humans, Microtubule-Associated Proteins, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::36edfc18b2389973205766ec7f7079f9Test
https://pubmed.ncbi.nlm.nih.gov/25957632Test -
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المؤلفون: Angela, Pyle, Venkateswaran, Ramesh, Marina, Bartsakoulia, Veronika, Boczonadi, Aurora, Gomez-Duran, Agnes, Herczegfalvi, Emma L, Blakely, Tania, Smertenko, Jennifer, Duff, Gail, Eglon, David, Moore, Patrick, Yu-Wai-Man, Konstantinos, Douroudis, Mauro, Santibanez-Koref, Helen, Griffin, Hanns, Lochmüller, Veronika, Karcagi, Robert W, Taylor, Patrick F, Chinnery, Rita, Horvath
المصدر: Journal of neuromuscular diseases
مصطلحات موضوعية: spastic paraplegia, peripheral neuropathy, ataxia, Behr’s syndrome, optic atrophy, mitochondrial translation, Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::c525f606aab9498130d91faa2107e341Test
https://pubmed.ncbi.nlm.nih.gov/26380172Test -
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المؤلفون: Helen Griffin, Rita Horvath, Aurora Gomez-Duran, Konstantinos Douroudis, Marina Bartsakoulia, Angela Pyle, Hanns Lochmüller, Tania Smertenko, Veronika Karcagi, Gail Eglon, Patrick Yu-Wai-Man, Veronika Boczonadi, Venkateswaran Ramesh, Jennifer Duff, Emma L. Blakely, Agnes Herczegfalvi, Mauro Santibanez-Koref, Robert W. Taylor, Patrick F. Chinnery, David Moore
المساهمون: Yu Wai Man, Patrick [0000-0001-7847-9320], Chinnery, Patrick [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ataxia, peripheral neuropathy, spastic paraplegia, Mitochondrial translation, business.industry, Nonsense mutation, ataxia, medicine.disease, mitochondrial translation, 3. Good health, Ophthalmoparesis, Peripheral neuropathy, Atrophy, Neurology, medicine, Behr’s syndrome, optic atrophy, Neurology (clinical), medicine.symptom, business, Gene, Exome sequencing
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9569ea050f394dd1213ab9e339e71e63Test
https://www.repository.cam.ac.uk/handle/1810/290355Test -
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المؤلفون: Mauro Santibanez-Korev, Helen Griffin, Patrick F. Chinnery, Stuart Pickering-Brown, Patrick Yu-Wai-Man, Angela Pyle, Jennifer Duff, Gail Eglon, Rita Horvath
المصدر: Archives of Neurology. 69
مصطلحات موضوعية: Adult, Male, Genetic Medicine, Ataxia, Neurogenetics, Compound heterozygosity, medicine.disease_cause, Frameshift mutation, Arts and Humanities (miscellaneous), medicine, Humans, Spinocerebellar Ataxias, Exome, Heat-Shock Proteins, Exome sequencing, Genetics, Mutation, business.industry, Siblings, Sequence Analysis, DNA, Muscle Spasticity, Female, Neurology (clinical), Nervous System Diseases, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ebe9607a0925689ff72d62e6862dfe6Test
https://doi.org/10.1001/archneurol.2012.1472Test -
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المؤلفون: Charlotte, Foley, Ian, Schofield, Gail, Eglon, Geraldine, Bailey, Patrick F, Chinnery, Rita, Horvath
المصدر: Journal of neurology, neurosurgery, and psychiatry. 83(5)
مصطلحات موضوعية: Arthrogryposis, Male, England, Charcot-Marie-Tooth Disease, Prevalence, Humans, Female, Hereditary Sensory and Motor Neuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::1037463611ae7c8e03f30d96d840fec0Test
https://pubmed.ncbi.nlm.nih.gov/21984771Test -
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المؤلفون: Rita Horvath, Patrick F. Chinnery, Ian S. Schofield, Charlotte Foley, Gail Eglon, Geraldine Bailey
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 83:572-573
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, education.field_of_study, medicine.medical_specialty, business.industry, Population, Prevalence, Primary care, Census, Psychiatry and Mental health, Tooth disease, Clinical diagnosis, New disease, Family medicine, Epidemiology, Optometry, Medicine, Surgery, Neurology (clinical), education, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b2046dedfac377060cfef9bb8989db90Test
https://doi.org/10.1136/jnnp-2011-300285Test