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

المصدر: Journal of Medical Genetics. 52(2)

مصطلحات موضوعية: Neurodegenerative, Neurosciences, Rare Diseases, Genetics, Brain Disorders, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Alleles, Amino Acid Sequence, Animals, Blepharoptosis, Carboxylic Ester Hydrolases, Central Nervous System, Developmental Disabilities, Dwarfism, Embryonic Development, Gene Expression Regulation, Developmental, Genetic Predisposition to Disease, Humans, Hypertrichosis, Intellectual Disability, Laurence-Moon Syndrome, Molecular Sequence Data, Mutation, Phenotype, Phospholipases, Protein Structure, Tertiary, Retina, Retinitis Pigmentosa, Zebrafish, Dermatology, Developmental, Neuro endocrinology, Ophthalmology, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/60s049d5

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

المصدر: PeerJ ; volume 7, page e7983 ; ISSN 2167-8359

الاتاحة: http://dx.doi.org/10.7717/peerj.7983
https://peerj.com/articles/7983.pdf
https://peerj.com/articles/7983.xml
https://peerj.com/articles/7983.html

المؤلفون: Chelban, Viorica, Wiethoff, Sarah, Fabian-Jessing, Bjørn K, Haridy, Nourelhoda A, Khan, Alaa, Efthymiou, Stephanie, Becker, Esther B E, O'Connor, Emer, Hersheson, Joshua, Newland, Katrina, Hojland, Allan Thomas, Gregersen, Pernille A, Lindquist, Suzanne G, Petersen, Michael B, Nielsen, Jørgen E, Nielsen, Michael, Wood, Nicholas W, Giunti, Paola, Houlden, Henry

المصدر: Chelban , V , Wiethoff , S , Fabian-Jessing , B K , Haridy , N A , Khan , A , Efthymiou , S , Becker , E B E , O'Connor , E , Hersheson , J , Newland , K , Hojland , A T , Gregersen , P A , Lindquist , S G , Petersen , M B , Nielsen , J E , Nielsen , M , Wood , N W , Giunti , P & Houlden , H 2018 , ' Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14 ....

مصطلحات موضوعية: PRKCG, SCA14, ataxia, dystonia, genetics

وصف الملف: application/pdf

الاتاحة: https://pure.au.dk/portal/en/publications/7bac6780-45cd-463b-9c7c-90e30c20afe9
https://doi.org/10.1002/mds.27334
https://pure.au.dk/ws/files/168153990/Chelban_et_al_2018_Movement_Disorders.pdf
http://www.scopus.com/inward/record.url?scp=85044596874&partnerID=8YFLogxK

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

المساهمون: Medical Research Council, Wellcome Trust, Ataxia UK, National Ataxia Foundation, Brain Research Trust

المصدر: Journal of Neurology ; volume 263, issue 8, page 1503-1510 ; ISSN 0340-5354 1432-1459

الاتاحة: http://dx.doi.org/10.1007/s00415-016-8148-6
http://link.springer.com/content/pdf/10.1007/s00415-016-8148-6.pdf
http://link.springer.com/article/10.1007/s00415-016-8148-6/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00415-016-8148-6

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

المصدر: The Cerebellum ; volume 16, issue 1, page 262-267 ; ISSN 1473-4222 1473-4230

الاتاحة: http://dx.doi.org/10.1007/s12311-016-0769-x
http://link.springer.com/content/pdf/10.1007/s12311-016-0769-x.pdf
http://link.springer.com/article/10.1007/s12311-016-0769-x/fulltext.html
http://link.springer.com/content/pdf/10.1007/s12311-016-0769-x

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

المصدر: Cell Reports ; volume 16, issue 1, page 79-91 ; ISSN 2211-1247

الاتاحة: http://dx.doi.org/10.1016/j.celrep.2016.05.044
https://api.elsevier.com/content/article/PII:S2211124716306271?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2211124716306271?httpAccept=text/plain

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

المصدر: Brain ; volume 138, issue 8, page e370-e370 ; ISSN 0006-8950 1460-2156

الاتاحة: https://doi.org/10.1093/brain/awu403
http://academic.oup.com/brain/article-pdf/138/8/e370/11141469/awu403.pdf

المؤلفون: Mencacci, Niccolo E., Erro, Roberto, Wiethoff, Sarah, Hersheson, Joshua, Ryten, Mina, Balint, Bettina, Ganos, Christos, Stamelou, Maria, Quinn, Niall, Houlden, Henry, Wood, Nicholas W., Bhatia, Kailash P.

المصدر: Neurology ; volume 85, issue 1, page 80-88 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000001720
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000001720

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

المصدر: The American Journal of Human Genetics ; volume 96, issue 6, page 1008-1009 ; ISSN 0002-9297

الاتاحة: https://doi.org/10.1016/j.ajhg.2015.05.010
https://api.elsevier.com/content/article/PII:S0002929715001962?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929715001962?httpAccept=text/plain

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

المساهمون: on behalf of the International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

Relation: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/12126; urn:nbn:de:bvb:20-opus-121268; https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-121268; https://doi.org/10.1093/brain/awu179; https://opus.bibliothek.uni-wuerzburg.de/files/12126/035_Mencacci_Brain.pdf

الاتاحة: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/12126
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-121268
https://doi.org/10.1093/brain/awu179
https://opus.bibliothek.uni-wuerzburg.de/files/12126/035_Mencacci_Brain.pdf

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

المصدر: The American Journal of Human Genetics ; volume 95, issue 5, page 611-621 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2014.10.007
https://api.elsevier.com/content/article/PII:S0002929714004297?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S0002929714004297?httpAccept=text/xml

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

المصدر: JAMA Neurology ; volume 71, issue 7, page 831 ; ISSN 2168-6149

الاتاحة: http://dx.doi.org/10.1001/jamaneurol.2014.756
http://jamanetwork.com/journals/jamaneurology/fullarticle/1873904

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

المصدر: Annals of Neurology ; volume 73, issue 4, page 546-553 ; ISSN 0364-5134 1531-8249

الاتاحة: http://dx.doi.org/10.1002/ana.23832
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.23832
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.23832
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ana.23832

المؤلفون: Bates, Claire, Baxter, Peter, Bonney, Harriet, Bremner, Fion, Bunn, Lisa, Carrillo Perez-Tome, Maria, Chung, Mark, Cipolotti, Lisa, de Silva, Rajith, Duberley, Kate, Ealing, John, Emmanuel, Anton, Giunti, Paola, Greenfield, Julie, Hadjivassilliou, Marios, Harshavardhana, N.S., Hayward, Kate, Hendriksz, Christian, Hersheson, Joshua, Horvath, Rita, Hurford, Joanne, Jaffer, Fatima, Kilbride, Cherry, Lowit, Anja, Marsden, Jonathan, Nemeth, Andrea, Noordeen, M H Hilali, Panicker, Jalesh, Pantazis, Antonios, Parkinson, Michael H, Redmond, Liz, Uus, Kai

مصطلحات موضوعية: Other systems of medicine

وصف الملف: text

Relation: https://strathprints.strath.ac.uk/57237/1/Ataxia_UK_2016_Management_of_the_ataxias_towards_best_clinical.pdf; Bates, Claire and Baxter, Peter and Bonney, Harriet and Bremner, Fion and Bunn, Lisa and Carrillo Perez-Tome, Maria and Chung, Mark and Cipolotti, Lisa and de Silva, Rajith and Duberley, Kate and Ealing, John and Emmanuel, Anton and Giunti, Paola and Greenfield, Julie and Hadjivassilliou, Marios and Harshavardhana, N.S. and Hayward, Kate and Hendriksz, Christian and Hersheson, Joshua and Horvath, Rita and Hurford, Joanne and Jaffer, Fatima and Kilbride, Cherry and Lowit, Anja and Marsden, Jonathan and Nemeth, Andrea and Noordeen, M H Hilali and Panicker, Jalesh and Pantazis, Antonios and Parkinson, Michael H and Redmond, Liz and Uus, Kai (2016 ) Management of the ataxias : towards best clinical practice. Ataxia UK, London.

الاتاحة: https://strathprints.strath.ac.uk/57237/
https://strathprints.strath.ac.uk/57237/1/Ataxia_UK_2016_Management_of_the_ataxias_towards_best_clinical.pdf
https://www.ataxia.org.uk/clinical-guidelines

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

المصدر: PeerJ; Nov2019, p1-21, 21p

مصطلحات موضوعية: MYELIN proteins, MYELIN basic protein, MOTOR neuron diseases, CHARCOT-Marie-Tooth disease, NEUROPATHY, MUSCULAR dystrophy, FACIOSCAPULOHUMERAL muscular dystrophy, NEUROMUSCULAR diseases

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

المصدر: Movement Disorders Clinical Practice ; volume 2, issue 3, page 271-273 ; ISSN 2330-1619 2330-1619

الاتاحة: http://dx.doi.org/10.1002/mdc3.12190
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmdc3.12190
https://onlinelibrary.wiley.com/doi/full/10.1002/mdc3.12190

المؤلفون: Mencacci, Niccolò, Erro, Roberto, Hersheson, Joshua, Wiethoff, Sarah, Wood, Nicholas, Houlden, Henry, Bhatia, Kailash

المصدر: Neurology ; volume 84, issue 14_supplement ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.84.14_supplement.p3.036

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

المصدر: Parkinsonism & Related Disorders ; volume 21, issue 11, page 1389-1390 ; ISSN 1353-8020

الاتاحة: http://dx.doi.org/10.1016/j.parkreldis.2015.09.010
https://api.elsevier.com/content/article/PII:S1353802015003855?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S1353802015003855?httpAccept=text/xml

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

المصدر: Parkinsonism & Related Disorders ; volume 21, issue 9, page 1122-1123 ; ISSN 1353-8020

الاتاحة: http://dx.doi.org/10.1016/j.parkreldis.2015.07.012
https://api.elsevier.com/content/article/PII:S135380201500303X?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S135380201500303X?httpAccept=text/xml

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

المصدر: Brain 137(9), 2480-2492 (2014). doi:10.1093/brain/awu179

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adolescent, Adult, Aged, 80 and over, Child, Databases, Genetic, Europe: epidemiology, Female, GTP Cyclohydrolase: genetics, Genetic Variation, Heterozygote, Humans, Male, Middle Aged, Mutation: genetics, Parkinson Disease: diagnosis, Parkinson Disease: epidemiology, Parkinson Disease: genetics, Pedigree, Risk, United States: epidemiology, Young Adult, GTP Cyclohydrolase

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1460-2156; info:eu-repo/semantics/altIdentifier/issn/0006-8950; info:eu-repo/semantics/altIdentifier/pmid/pmid:24993959; https://pub.dzne.de/record/137585; https://pub.dzne.de/search?p=id:%22DZNE-2020-03907%22

الاتاحة: https://pub.dzne.de/record/137585
https://pub.dzne.de/search?p=id:%22DZNE-2020-03907%22