المؤلفون: Nicolas Granger, Alejandro Luján Feliu-Pascual, Charlotte Spicer, Sally Ricketts, Rebekkah Hitti, Oliver Forman, Joshua Hersheson, Henry Houlden

المصدر: PeerJ, Vol 7, p e7983 (2019)

مصطلحات موضوعية: Inherited polyneuropathy, Canine, Genetic variant, Demyelinating neuropathy, Myotubularine related proteins, Charcot-Marie-Tooth diseases, Medicine, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://peerj.com/articles/7983.pdf; https://peerj.com/articles/7983/; https://doaj.org/toc/2167-8359

URL الوصول: https://doaj.org/article/9f6e8033e94d4942b625baab28368c84

المؤلفون: Yubin Wang, Joshua Hersheson, Dulce Lopez, Monia Hammer, Yan Liu, Ka-Hung Lee, Vanessa Pinto, Jeff Seinfeld, Sarah Wiethoff, Jiandong Sun, Rim Amouri, Faycal Hentati, Neema Baudry, Jennifer Tran, Andrew B. Singleton, Marie Coutelier, Alexis Brice, Giovanni Stevanin, Alexandra Durr, Xiaoning Bi, Henry Houlden, Michel Baudry

المصدر: Cell Reports, Vol 16, Iss 1, Pp 79-91 (2016)

مصطلحات موضوعية: ataxia, calpain-1, cerebellum, apoptosis, development, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124716306271; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/d601d7357dbd4e38b3899bea517c5080

المؤلفون: Joshua Hersheson, Henry Houlden, Alejandro Luján Feliu-Pascual, Oliver P. Forman, Rebekkah J. Hitti, Charlotte Spicer, Nicolas Granger, Sally L. Ricketts

المصدر: PeerJ
PeerJ, Vol 7, p e7983 (2019)

مصطلحات موضوعية: Veterinary Medicine, Demyelinating neuropathy, lcsh:Medicine, Genome-wide association study, General Biochemistry, Genetics and Molecular Biology, Canine, 03 medical and health sciences, 0302 clinical medicine, SET-binding factor 2, Genotype, medicine, Genetics, Animal model, Muscular dystrophy, Spontaneous disease, Gene, Genome wide association screen, Genetic variant, 030304 developmental biology, 0303 health sciences, Autosome, biology, General Neuroscience, lcsh:R, Charcot-Marie-Tooth diseases, General Medicine, medicine.disease, Myelin basic protein, Peripheral neuropathy, Neurology, biology.protein, Inherited polyneuropathy, General Agricultural and Biological Sciences, Chromosome 21, 030217 neurology & neurosurgery, Myotubularine related proteins

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b56de39130002787c59220677042bcb6

المؤلفون: Henry Houlden, Conceição Bettencourt, Joshua Hersheson, Nicholas W. Wood, Sarah Wiethoff

المصدر: Journal of Neurology

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Ataxia, Cerebellar Ataxia, Turkey, Clinical Neurology, Nerve Tissue Proteins, Biology, medicine.disease_cause, Severity of Illness Index, Gene, Cohort Studies, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine, Humans, Clinical severity, Cognitive decline, Genetic Association Studies, Aged, Sri Lanka, Genetics, Arthrogryposis, Mutation, Original Communication, SYNE1, Cerebellar ataxia, Nuclear Proteins, medicine.disease, Magnetic Resonance Imaging, United Kingdom, Pedigree, 3. Good health, Cytoskeletal Proteins, Phenotype, Genotype–phenotype, 030104 developmental biology, Neurology, Spinocerebellar ataxia, Female, Neurology (clinical), medicine.symptom, Cognition Disorders, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44094df0aa97744e9c7842fc845005ec
https://doi.org/10.1007/s00415-016-8148-6

المؤلفون: Henry Houlden, Joshua Hersheson, Prochi F. Madon, Yo-Tsen Liu, Reema Paudel, Conceição Bettencourt, Noshir Wadia, Sarah Wiethoff, Joy Desai

المصدر: Cerebellum (London, England)

مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Cerebellar Ataxia, Hereditary spastic paraplegia, Short Report, Consanguinity, Gene, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, PNPLA6, medicine, Humans, Missense mutation, Family, Aged, Medicine(all), Genetics, Sanger sequencing, Sequence Homology, Amino Acid, Cerebellar ataxia, business.industry, Genetic heterogeneity, Middle Aged, medicine.disease, Disease gene identification, Pedigree, 3. Good health, Phenotype, 030104 developmental biology, Neurology, Phospholipases, Mutation, symbols, Female, Neurology (clinical), medicine.symptom, business, Mutations, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d6b9b21f777b65b17fcd473241426f2
https://doi.org/10.1007/s12311-016-0769-x

المؤلفون: Henry Houlden, John Hardy, Rita Guerreiro, Joshua Hersheson, Maria Stamelou, Christos Ganos, Niall Quinn, Niccolo E. Mencacci, Amit Batla, Kailash P. Bhatia, Stefanie Thust, Jose Bras, Roberto Erro

المصدر: Movement Disorders. 30:828-833

مصطلحات موضوعية: Genetics, Cerebellum, Biology, medicine.disease, Genetic analysis, Phenotype, Aphonia, Exon, Atrophy, medicine.anatomical_structure, Neurology, Pleiotropy, medicine, Neurology (clinical), medicine.symptom, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8d4578621a5da4bb9ad5d0df1e95151c
https://doi.org/10.1002/mds.26129

المؤلفون: Henry Houlden, Thomas Jaworek, Yvonne C Anderson, Rudy J. Richardson, Sarah Hull, Louise C. Gregory, Saima Riazuddin, Thomas M. Morgan, Joshua Hersheson, Craig Jefferies, Gavin Arno, Anthony T. Moore, Abi Li, Hélène Dollfus, Corinne Stoetzel, Christi M. Willen, Juan Pedro Martinez-Barbera, Robert A. Sisk, Megana K. Prasad, Mehul T. Dattani, Gregory A. Grabowski, Cynthia A. Prows, Rashmi S. Hegde, Tamas Revesz, John K. Fink, Zubair M. Ahmed, Robert B. Hufnagel, Klaus Dieterich, Vincent Plagnol, Laura Krueger, Taosheng Huang, Nichole D. Hein

المصدر: J Med Genet

مصطلحات موضوعية: Central Nervous System, Retinal degeneration, medicine.medical_specialty, Pathology, Pituitary disorder, Developmental Disabilities, Molecular Sequence Data, Hypertrichosis, Embryonic Development, Dwarfism, Neuropathy target esterase, Biology, Article, Retina, Bardet–Biedl syndrome, Intellectual Disability, Internal medicine, Genetics, medicine, Cerebellar Degeneration, Animals, Blepharoptosis, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Trichomegaly, Alleles, Zebrafish, Genetics (clinical), Laurence-Moon Syndrome, Gene Expression Regulation, Developmental, medicine.disease, Protein Structure, Tertiary, Phenotype, Endocrinology, Phospholipases, Mutation, Spinocerebellar ataxia, biology.protein, Laurence–Moon syndrome, medicine.symptom, Carboxylic Ester Hydrolases, Retinitis Pigmentosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81d2653f4334466591c2904ae55c110c
https://doi.org/10.1136/jmedgenet-2014-102856

المؤلفون: Christos Proukakis, Alan M. Pittman, Michaela Auer-Grumbach, Henry Houlden, Kevin G. Shields, Mary M. Reilly, James M. Polke, Alejandro Horga, Joshua Hersheson, Stephan Züchner, Matilde Laura, Zane Jaunmuktane, Mary G. Sweeney, Yo Tsen Liu, John C. Janssen, Deborah Hughes, Sebastian Brandner

المصدر: Neurology. 83:612-619

مصطلحات موضوعية: Adult, Male, Axonal neuropathy, Hereditary spastic paraplegia, Kinesins, Disease, Biology, medicine.disease_cause, Exon, Charcot-Marie-Tooth Disease, medicine, Spastic, Humans, Family, Child, Genetics, Mutation, Spastic Paraplegia, Hereditary, Exons, Sequence Analysis, DNA, Middle Aged, medicine.disease, Phenotype, Pedigree, Nerve Degeneration, Female, Neurology (clinical), Paraplegia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd39f00746d04c4417d6108db2237069
https://doi.org/10.1212/wnl.0000000000000691

المؤلفون: Henry Houlden, Dimitri M. Kullmann, Conceição Bettencourt, Bettina Balint, Joshua Hersheson, DM Kailash P. Bhatia Md, Roman Praschberger, Ignacio Rubio-Agusti, Niccolo E. Mencacci

المصدر: Movement Disorders Clinical Practice. 2:271-273

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Ataxia, business.industry, SCARB2, Progressive myoclonus epilepsy, Compound heterozygosity, medicine.disease, Epilepsy, Neurology, Immunology, medicine, Missense mutation, Neurology (clinical), Allele, medicine.symptom, business, Myoclonus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::270882d4fb82a9cee34b68c84e2701e2
https://doi.org/10.1002/mdc3.12190

المؤلفون: Katherine A. Fawcett, Kailash P. Bhatia, Henry Houlden, Nicholas W. Wood, Joshua Hersheson, Nicola MacDonald, Mary B. Davis, Alan M. Pittman, John Hardy, Reema Paudel, Horia Stanescu, Eleanna Kara, Niccolo E. Mencacci, Vincent Plagnol, Alan Medlar, Daniah Trabzuni, Mina Ryten, Robert Kleta

المصدر: Annals of Neurology

مصطلحات موضوعية: Adult, Male, Genotype, Genetic Linkage, Locus (genetics), Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Tubulin, Genetic linkage, medicine, Animals, Humans, Exome, Genetic Predisposition to Disease, Cervical dystonia, Exome sequencing, 030304 developmental biology, Dystonia, Genetics, 0303 health sciences, Australia, Brain, Original Articles, Middle Aged, medicine.disease, Pedigree, England, Neurology, Dystonic Disorders, Mutation, Female, Neurology (clinical), 030217 neurology & neurosurgery, Dystonic disorder

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6b343b2b6788df0f180810233455338
https://doi.org/10.1002/ana.23832

المؤلفون: Christos Ganos, Joshua Hersheson, Matthew Adams, Henry Houlden, Kailash P. Bhatia

المصدر: Parkinsonismrelated disorders. 21(11)

مصطلحات موضوعية: Genetics, Male, Muscle Hypotonia, Cerebellar ataxia, Cerebellar Ataxia, business.industry, Hypogonadism, Ubiquitin-Protein Ligases, Demyelinating Autoimmune Diseases, CNS, medicine.disease, Neurology, Hypogonadotropic hypogonadism, Mutation (genetic algorithm), Mutation, Medicine, Humans, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ba879dc77adb524086c1560fbb170ff
https://pubmed.ncbi.nlm.nih.gov/26365775

المؤلفون: Roman, Praschberger, Bettina, Balint, Niccolo E, Mencacci, Joshua, Hersheson, Ignacio, Rubio-Agusti, Dimitri M, Kullmann, Conceição, Bettencourt, Kailash, Bhatia, Henry, Houlden

المصدر: Movement disorders clinical practice. 2(3)

مصطلحات موضوعية: Research Articles

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::507cec1941d59aae4769fea84de61932
https://pubmed.ncbi.nlm.nih.gov/30363482

المؤلفون: Roberto, Erro, Joshua, Hersheson, Henry, Houlden, Kailash P, Bhatia

المصدر: Brain : a journal of neurology. 138(Pt 8)

مصطلحات موضوعية: Male, Leukoencephalopathies, Tubulin, Cerebellum, Mutation, Humans, Female, Basal Ganglia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ee2411f65c79cc7835ac633e889d3603
https://pubmed.ncbi.nlm.nih.gov/25619510

المؤلفون: Peter E. Clayton, Julian Fearnley, Thomas S. Jacques, Nicholas W. Wood, Henry Houlden, Sara E. Mole, Glenn Anderson, Derek Burke, Paul Gissen, Robert Clayton, Joshua Hersheson, Philippa B. Mills

المصدر: Neurology. 83(20)

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Ataxia, Mutation, Missense, Cathepsin D, Biology, Epilepsy, Neuronal Ceroid-Lipofuscinoses, Internal medicine, medicine, Humans, Cognitive decline, Muscle, Skeletal, Clinical/Scientific Notes, Family Health, Cerebellar ataxia, Infant, Newborn, medicine.disease, Phenotype, Endocrinology, Cathepsin D deficiency, Female, Neurology (clinical), medicine.symptom, Motor deterioration

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9cfdc134617e05e81db1282878547fb
https://pubmed.ncbi.nlm.nih.gov/25298308

المؤلفون: Niccolò E, Mencacci, Ioannis U, Isaias, Martin M, Reich, Christos, Ganos, Vincent, Plagnol, James M, Polke, Jose, Bras, Joshua, Hersheson, Maria, Stamelou, Alan M, Pittman, Alastair J, Noyce, Kin Y, Mok, Thomas, Opladen, Erdmute, Kunstmann, Sybille, Hodecker, Alexander, Münchau, Jens, Volkmann, Samuel, Samnick, Katie, Sidle, Tina, Nanji, Mary G, Sweeney, Henry, Houlden, Amit, Batla, Anna L, Zecchinelli, Gianni, Pezzoli, Giorgio, Marotta, Andrew, Lees, Paulo, Alegria, Paul, Krack, Florence, Cormier-Dequaire, Suzanne, Lesage, Alexis, Brice, Peter, Heutink, Thomas, Gasser, Steven J, Lubbe, Huw R, Morris, Pille, Taba, Sulev, Koks, Elisa, Majounie, J, Raphael Gibbs, Andrew, Singleton, John, Hardy, Stephan, Klebe, Kailash P, Bhatia, Nicholas W, Wood

المصدر: Brain : a journal of neurology. 137(Pt 9)

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Risk, Heterozygote, Adolescent, Genetic Variation, Parkinson Disease, Middle Aged, United States, Pedigree, Europe, Young Adult, Databases, Genetic, Mutation, Humans, Female, Child, GTP Cyclohydrolase, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::10d205e2c8dbb45e00aeb58b79bbef0e
https://pubmed.ncbi.nlm.nih.gov/26012785

المؤلفون: Joshua Hersheson, Henry Houlden, Mina Ryten, John Hardy, Paola Forabosco, Conceição Bettencourt, Stephanie Schorge

المصدر: JAMA neurology. 71(7)

مصطلحات موضوعية: Genetics, Regulation of gene expression, Candidate gene, Cerebellar ataxia, Gene Expression Profiling, Gene regulatory network, Tissue Banks, Biology, medicine.disease, Phenotype, Article, Gene expression profiling, Gene Expression Regulation, Cerebellar Diseases, Genetic Loci, Mutation, medicine, Spinocerebellar ataxia, Humans, Spinocerebellar Ataxias, Neurology (clinical), medicine.symptom, Candidate Disease Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf9887a5634879ebc9dea426a0e28182
https://pubmed.ncbi.nlm.nih.gov/24861589

المؤلفون: Roberto, Erro, Joshua, Hersheson, Christos, Ganos, Niccoló E, Mencacci, Maria, Stamelou, Amit, Batla, Stefanie Catherine, Thust, Jose M, Bras, Rita J, Guerreiro, John, Hardy, Niall P, Quinn, Henry, Houlden, Kailash P, Bhatia

مصطلحات موضوعية: Adult, Male, Heterozygote, Voice Disorders, Dystonia Musculorum Deformans, beta-tubulin, Genetic Pleiotropy, Exons, DYT4, TUBB4A, mutations, hypomyelination with atrophy of basal ganglia and cerebellum, whispering dystonia, Basal Ganglia, Phenotype, Leukoencephalopathies, Tubulin, Cerebellum, Mutation, Humans, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::da8887fdf2c7043c4dd022a34919d06a
http://hdl.handle.net/11562/867374

المؤلفون: Joshua Hersheson, Henry Houlden, Kailash P. Bhatia, Roberto Erro

المصدر: Brain. 138:e370-e370

مصطلحات موضوعية: Genetics, Correlation, Atrophy, business.industry, Mutation (genetic algorithm), medicine, In patient, Neurology (clinical), medicine.disease, business, Phenotype, Genotype phenotype, Clinical neurology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c52c05fa80b035577c69abee5388d257
https://doi.org/10.1093/brain/awu403

المؤلفون: Roberto Erro, Joshua Hersheson, Henry Houlden, Kailash P. Bhatia

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://brain.oxfordjournals.org/content/brain/early/2015/01/21/brain.awu403.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.692.4330; http://brain.oxfordjournals.org/content/brain/early/2015/01/21/brain.awu403.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.692.4330
http://brain.oxfordjournals.org/content/brain/early/2015/01/21/brain.awu403.full.pdf

المؤلفون: Jorge M. Saraiva, Henry Houlden, S. Seto-Salvia, Mary O'Sullivan, Mina Ryten, Dawn E. Saunders, Francesco Lescai, A. Straatmaan-Iwanowska, B. Farren, Joshua Hersheson, Chela James, Nicholas W. Wood, Sérgio B. Sousa, Hywel Williams, Chiara Bacchelli, Konstantinos Mengrelis, Miho Ishida, Jane A. Hurst, Richard H. Scott, Bertrand Vernay, Andrew J. Duncan, Glenn Anderson, Gudrun E. Moore, Estelle Chanudet, Paul Gissen, Louise Ocaka, Philip Stanier, Dagan Jenkins, Anna C. Thomas, Deborah Morrogh, Y.J. Pai, Fabiana Ramos, Frank Baas, Maria Bitner-Glindzicz

المساهمون: ANS - Amsterdam Neuroscience, Genome Analysis

المصدر: Thomas, A C, Williams, H, Setõ-Salvia, N, Bacchelli, C, Jenkins, D, O'Sullivan, M, Mengrelis, K, Ishida, M, Ocaka, L, Chanudet, E, James, C, Lescai, F, Anderson, G, Morrogh, D, Ryten, M, Duncan, A J, Pai, Y J, Saraiva, J M, Ramos, F, Farren, B, Saunders, D, Vernay, B, Gissen, P, Straatmaan-Iwanowska, A, Baas, F, Wood, N W, Hersheson, J, Houlden, H, Hurst, J, Scott, R, Bitner-Glindzicz, M, Moore, G E, Sousa, S B & Stanier, P 2014, ' Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome ', American Journal of Human Genetics, vol. 95, no. 5, pp. 611-621 . https://doi.org/10.1016/j.ajhg.2014.10.007
American journal of human genetics, 95(5), 611-621. Cell Press

مصطلحات موضوعية: Male, Cerebellar Ataxia, Molecular Sequence Data, Genes, Recessive, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Report, Intellectual disability, Ataxia Cerebelar, Genetics, Humans, Medicine, Genetics(clinical), Gene Regulatory Networks, 10. No inequality, Sorting Nexins, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, business.industry, Deficiência Intelectual, Chromosome Mapping, Autosomal recessive cerebellar ataxia, Sequence Analysis, DNA, Fibroblasts, medicine.disease, Human genetics, Pedigree, Microscopy, Electron, Codon, Nonsense, Nexinas de Classificação, Female, Erratum, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7736db6330ca9502b0eb973aa687b8ea