المؤلفون: Bandres‐Ciga, Sara, Faghri, Faraz, Majounie, Elisa, Koretsky, Mathew J., Kim, Jeffrey, Levine, Kristin S., Leonard, Hampton, Makarious, Mary B., Iwaki, Hirotaka, Crea, Peter Wild, Hernandez, Dena G., Arepalli, Sampath, Billingsley, Kimberley, Lohmann, Katja, Klein, Christine, Lubbe, Steven J., Jabbari, Edwin, Saffie‐Awad, Paula, Narendra, Derek, Reyes‐Palomares, Armando, Quinn, John P., Schulte, Claudia, Morris, Huw R., Traynor, Bryan J., Scholz, Sonja W., Houlden, Henry, Hardy, John, Dumanis, Sonya, Riley, Ekemini, Blauwendraat, Cornelis, Singleton, Andrew, Nalls, Mike, Jeff, Janina, Vitale, Dan

المساهمون: National Institute on Aging, National Institute of Neurological Disorders and Stroke, Michael J. Fox Foundation for Parkinson's Research

المصدر: Movement Disorders ; ISSN 0885-3185 1531-8257

الاتاحة: http://dx.doi.org/10.1002/mds.29902

المؤلفون: Chia, Ruth, Ray, Anindita, Shah, Zalak, Ding, Jinhui, Ruffo, Paola, Fujita, Masashi, Menon, Vilas, Saez-Atienzar, Sara, Reho, Paolo, Kaivola, Karri, Walton, Ronald L, Reynolds, Regina H, Karra, Ramita, Sait, Shaimaa, Akcimen, Fulya, Diez-Fairen, Monica, Alvarez, Ignacio, Fanciulli, Alessandra, Stefanova, Nadia, Seppi, Klaus, Duerr, Susanne, Leys, Fabian, Krismer, Florian, Sidoroff, Victoria, Zimprich, Alexander, Pirker, Walter, Rascol, Olivier, Foubert-Samier, Alexandra, Meissner, Wassilios G, Tison, François, Pavy-Le Traon, Anne, Pellecchia, Maria Teresa, Barone, Paolo, Russillo, Maria Claudia, Marín-Lahoz, Juan, Kulisevsky, Jaime, Torres, Soraya, Mir, Pablo, Periñán, Maria Teresa, Proukakis, Christos, Chelban, Viorica, Wu, Lesley, Goh, Yee Y, Parkkinen, Laura, Hu, Michele T, Kobylecki, Christopher, Saxon, Jennifer A, Rollinson, Sara, Garland, Emily, Biaggioni, Italo, Litvan, Irene, Rubio, Ileana, Alcalay, Roy N, Kwei, Kimberly T, Lubbe, Steven J, Mao, Qinwen, Flanagan, Margaret E, Castellani, Rudolph J, Khurana, Vikram, Ndayisaba, Alain, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C, Moore, Anni, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Kim, Changyoun, Iba, Michiyo, Masliah, Eliezer, Dawson, Ted M, Rosenthal, Liana S, Pantelyat, Alexander, Albert, Marilyn S, Pletnikova, Olga, Troncoso, Juan C, Infante, Jon, Lage, Carmen, Sánchez-Juan, Pascual, Serrano, Geidy E, Beach, Thomas G, Pastor, Pau, Morris, Huw R, Albani, Diego, Clarimon, Jordi, Wenning, Gregor K, Hardy, John A, Ryten, Mina, Topol, Eric, Torkamani, Ali, Chiò, Adriano, Bennett, David A, De Jager, Philip L, Low, Philip A, Singer, Wolfgang, Cheshire, William P, Wszolek, Zbigniew K, Dickson, Dennis W, Traynor, Bryan J, Gibbs, J Raphael, Dalgard, Clifton L, Ross, Owen A, Houlden, Henry, Scholz, Sonja W

المصدر: Neuron (2024) (In press).

مصطلحات موضوعية: Multiple system atrophy, MSA, whole genome sequencing, genome-wide association study, GWAS, transcriptome-wide association study, TWAS, gene-burden analysis, colocalization, pathway analysis, repeat expansion mapping

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10191935/1/1-s2.0-S089662732400240X-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10191935/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10191935/1/1-s2.0-S089662732400240X-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10191935/

المؤلفون: CHIA, Ruth, RAY, Anindita, SHAH, Zalak, DING, Jinhui, RUFFO, Paola, FUJITA, Masashi, MENON, Vilas, SAEZ-ATIENZAR, Sara, REHO, Paolo, KAIVOLA, Karri, WALTON, Ronald L, REYNOLDS, Regina H, KARRA, Ramita, SAIT, Shaimaa, AKCIMEN, Fulya, DIEZ-FAIREN, Monica, ALVAREZ, Ignacio, FANCIULLI, Alessandra, STEFANOVA, Nadia, SEPPI, Klaus, DUERR, Susanne, LEYS, Fabian, KRISMER, Florian, SIDOROFF, Victoria, ZIMPRICH, Alexander, PIRKER, Walter, RASCOL, Olivier, SAMIER FOUBERT, Alexandra, MEISSNER, Wassilios, TISON, Francois, PAVY-LE TRAON, Anne, PELLECCHIA, Maria Teresa, BARONE, Paolo, RUSSILLO, Maria Claudia, MARIN-LAHOZ, Juan, KULISEVSKY, Jaime, TORRES, Soraya, MIR, Pablo, PERINAN, Maria Teresa, PROUKAKIS, Christos, CHELBAN, Viorica, WU, Lesley, GOH, Yee Y, PARKKINEN, Laura, HU, Michele T, KOBYLECKI, Christopher, SAXON, Jennifer A, ROLLINSON, Sara, GARLAND, Emily, BIAGGIONI, Italo, LITVAN, Irene, RUBIO, Ileana, ALCALAY, Roy N, KWEI, Kimberly T, LUBBE, Steven J, MAO, Qinwen, FLANAGAN, Margaret E, CASTELLANI, Rudolph J, KHURANA, Vikram, NDAYISABA, Alain, CALVO, Andrea, MORA, Gabriele, CANOSA, Antonio, FLORIS, Gianluca, BOHANNAN, Ryan C, MOORE, Anni, NORCLIFFE-KAUFMANN, Lucy, PALMA, Jose-Alberto, KAUFMANN, Horacio, KIM, Changyoun, IBA, Michiyo, MASLIAH, Eliezer, DAWSON, Ted M, ROSENTHAL, Liana S, PANTELYAT, Alexander, ALBERT, Marilyn S, PLETNIKOVA, Olga, TRONCOSO, Juan C, INFANTE, Jon, LAGE, Carmen, SANCHEZ-JUAN, Pascual, SERRANO, Geidy E, BEACH, Thomas G, PASTOR, Pau, MORRIS, Huw R, ALBANI, Diego, CLARIMON, Jordi, WENNING, Gregor K, HARDY, John A, RYTEN, Mina, TOPOL, Eric, TORKAMANI, Ali, CHIO, Adriano, BENNETT, David A, DE JAGER, Philip L, LOW, Philip A, SINGER, Wolfgang, CHESHIRE, William P, WSZOLEK, Zbigniew K, DICKSON, Dennis W, TRAYNOR, Bryan J, GIBBS, J Raphael, DALGARD, Clifton L, ROSS, Owen A, HOULDEN, Henry, SCHOLZ, Sonja W

مصطلحات موضوعية: GWAS, MSA, TWAS, Colocalization, Gene-Burden Analysis, Genome-Wide Association Study, Multiple System Atrophy, Pathway Analysis, Repeat Expansion Mapping, Transcriptome-Wide Association Study, Whole Genome Sequencing, Sciences du Vivant [q-bio]/Santé publique et épidémiologie

Relation: https://oskar-bordeaux.fr/handle/20.500.12278/200576

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/200576
https://hdl.handle.net/20.500.12278/200576
https://doi.org/10.1016/j.neuron.2024.04.002

المؤلفون: Danti, Federica Rachele, Sarmiento, Ignacio Juan Keller, Moloney, Patrick B., Colangelo, Isabel, Graziola, Federica, Garavaglia, Barbara, Zorzi, Giovanna, Mencacci, Niccolò E., Lubbe, Steven J.

المساهمون: Ministero dell'Istruzione e del Merito

المصدر: Movement Disorders ; volume 39, issue 4, page 747-749 ; ISSN 0885-3185 1531-8257

الاتاحة: http://dx.doi.org/10.1002/mds.29732

المؤلفون: Keller Sarmiento, Ignacio J., Bustos, Bernabe I., Blackburn, Joanna, Hac, Nicholas E.F., Ruzhnikov, Maura, Monroe, Matthea, Levy, Rebecca J., Kinsley, Lisa, Li, Megan, Silani, Vincenzo, Lubbe, Steven J., Krainc, Dimitri, Mencacci, Niccolò E.

المصدر: Movement Disorders ; volume 39, issue 7, page 1231-1236 ; ISSN 0885-3185 1531-8257

الاتاحة: http://dx.doi.org/10.1002/mds.29791

المؤلفون: Simkin, Dina, Papakis, Vasileios, Bustos, Bernabe I, Ambrosi, Christina M, Ryan, Steven J, Baru, Valeriya, Williams, Luis A, Dempsey, Graham T, McManus, Owen B, Landers, John E, Lubbe, Steven J, George, Alfred L, Kiskinis, Evangelos

المساهمون: Neurology

المصدر: Stem cell reports ; 17 ; 4 ; 993 ; 1008 ; United States

مصطلحات موضوعية: CRISPR/Cas9, KCNQ2, WGS, disease modeling, genome editing, iPSCs, isogenic control lines, mtDNA, on-target insertions/deletions

Relation: Stem Cell Reports; https://doi.org/10.1016/j.stemcr.2022.02.008; Simkin D, Papakis V, Bustos BI, Ambrosi CM, Ryan SJ, Baru V, Williams LA, Dempsey GT, McManus OB, Landers JE, Lubbe SJ, George AL Jr, Kiskinis E. Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls. Stem Cell Reports. 2022 Apr 12;17(4):993-1008. doi:10.1016/j.stemcr.2022.02.008. Epub 2022 Mar 10. PMID: 35276091; PMCID: PMC9023783.; http://hdl.handle.net/20.500.14038/52437

الاتاحة: https://doi.org/10.1016/j.stemcr.2022.02.008
https://hdl.handle.net/20.500.14038/52437

المؤلفون: Nasca, Alessia, Mencacci, Niccolò E, Invernizzi, Federica, Zech, Michael, Keller Sarmiento, Ignacio J, Legati, Andrea, Frascarelli, Chiara, Bustos, Bernabe I, Romito, Luigi M, Krainc, Dimitri, Winkelmann, Juliane, Carecchio, Miryam, Nardocci, Nardo, Zorzi, Giovanna, Prokisch, Holger, Lubbe, Steven J, Garavaglia, Barbara, Ghezzi, Daniele

المساهمون: ERA PerMed project PerMiM, Italian Ministry of Health, German Federal Ministry of Education and Research, European Joint Programme on Rare Diseases, Mariani Foundation, Parkinson’s Foundation Inc., German Research Foundation

المصدر: Brain ; volume 146, issue 7, page 2730-2738 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awad068
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad068/49697887/awad068.pdf
https://academic.oup.com/brain/article-pdf/146/7/2730/50784599/awad068.pdf

المؤلفون: Bandres-Ciga, Sara, Faghri, Faraz, Majounie, Elisa, Koretsky, Mathew J, Kim, Jeffrey, Levine, Kristin S, Leonard, Hampton, Makarious, Mary B, Iwaki, Hirotaka, Crea, Peter Wild, Hernandez, Dena G, Arepalli, Sampath, Billingsley, Kimberley, Lohmann, Katja, Klein, Christine, Lubbe, Steven J, Jabbari, Edwin, Saffie-Awad, Paula, Narendra, Derek, Reyes-Palomares, Armando, Quinn, John P, Schulte, Claudia, Morris, Huw R, Traynor, Bryan J, Scholz, Sonja W, Houlden, Henry, Hardy, John, Dumanis, Sonya, Riley, Ekemini, Blauwendraat, Cornelis, Singleton, Andrew, Nalls, Mike, Jeff, Janina, Vitale, Dan

المصدر: medRxiv.org: Cold Spring Harbor, NY, USA. (2023)

مصطلحات موضوعية: Genotyping, Global Parkinson’s Genetics Program, NeuroBooster array, diversity, genetic screening, neurological diseases

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10182858/6/Hardy_NeuroBooster%20Array_AM.pdf; https://discovery.ucl.ac.uk/id/eprint/10182858/3/Tables.xlsx; https://discovery.ucl.ac.uk/id/eprint/10182858/5/Hardy_NeuroBooster%20Array_Figures.pdf; https://discovery.ucl.ac.uk/id/eprint/10182858/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10182858/6/Hardy_NeuroBooster%20Array_AM.pdf
https://discovery.ucl.ac.uk/id/eprint/10182858/3/Tables.xlsx
https://discovery.ucl.ac.uk/id/eprint/10182858/5/Hardy_NeuroBooster%20Array_Figures.pdf
https://discovery.ucl.ac.uk/id/eprint/10182858/

المؤلفون: Meng, Linyan, Isohanni, Pirjo, Shao, Yunru, Graham, Brett H., Hickey, Scott E., Brooks, Stephanie, Suomalainen, Anu, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Hackenberg, Annette, High, Frances A., Armstrong-Javors, Amy, Mencacci, Niccolo E., Gonzalez-Latapi, Paulina, Kamel, Walaa A., Al-Hashel, Jasem Y., Bustos, Bernabe, Hernandez, Alejandro, Krainc, Dimitri, Lubbe, Steven J., Van Esch, Hilde, De Luca, Chiara, Ballon, Katleen, Ravelli, Claudia, Burglen, Lydie, Qebibo, Leila, Calame, Daniel G., Mitani, Tadahiro, Marafi, Dana, Pehlivan, Davut, Saadi, Nebal W., Sahin, Yavuz, Maroofian, Reza, Efthymiou, Stephanie, Houlden, Henry, Maqbool, Shazia, Rahman, Fatima, Gu, Shen, Posey, Jennifer E., Lupski, James R., Hunter, Jill, Wangler, Michael F., Carroll, Christopher J., Yang, Yaping

المساهمون: HUS Children and Adolescents, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Children's Hospital, Clinicum, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Lastenneurologian yksikkö, Helsinki University Hospital Area, HUS Helsinki and Uusimaa Hospital District, FinMIT Centre of Excellence (Wartiovaara Anu)

مصطلحات موضوعية: Neurosciences, Neurology and psychiatry

وصف الملف: application/pdf

Relation: N.E.M. is supported by a Parkinson's Foundation grant. P.I. is supported by the Foundation for Pediatric Research. D.K. is supported by the Simpson Querrey Center for Neurogenetics. Biospecimens used in the analyses presented in this article were obtained from the Northwestern University Movement Disorders Center (MDC) Biorepository. As such, the investigators within MDC Biorepository contributed to the design and implementation of the MDC Biorepository and/or provided data and collected biospecimens but did not participate in the analysis or writing of this report. MDC Biorepository investigators include Tanya Simuni, MD; Dimitri Krainc, MD, PhD; Opal Puneet, MD, PhD; Cindy Zadikoff, MD; Onur Melen, MD; Danny Bega, MD; Roneil G. Malkani, MD; Steven Lubbe, PhD; Niccolo E. Mencacci, MD, PhD; Christina Zelano, PhD; Joanna Blackburn, MD; Firas Wehbe, MD, PhD; Lisa Kinsley, MS, CGC; and Tina Ward, MS. A gift from the Malkin family generously supported the work of the MDC Biorepository. J.R.L. is supported by a grant from the National Human Genome Research Institute (NHGRI) and National Heart, Lung, and Blood Institute (NHLBI) to the Baylor-Hopkins Center for Mendelian Genomics (UM1 HG006542); a National Institute of Neurological Disorders and Stroke grant (R35NS105078); and an Muscular Dystrophy Association grant (512848). T.M. is supported by the Uehara Memorial Foundation. D.M. is supported by a Medical Genetics Research Fellowship Program through the National Institute of General Medical Sciences (NIGMS) at US NIH (T32 GM007526-42). D.P. is supported by a Clinical Research Training Scholarship in Neuromuscular Disease partnered by the American Brain Foundation and Muscle Study Group, and the International Rett Syndrome Foundation (grant #3701-1). J.E.P. was supported by NHGRI K08 HG008986.; Meng , L , Isohanni , P , Shao , Y , Graham , B H , Hickey , S E , Brooks , S , Suomalainen , A , Joset , P , Steindl , K , Rauch , A , Hackenberg , A , High , F A , Armstrong-Javors , A , Mencacci , N E , Gonzalez-Latapi , P , Kamel , W A , Al-Hashel , J Y , Bustos , B , Hernandez , A , Krainc , D , Lubbe , S J , Van Esch , H , De Luca , C , Ballon , K , Ravelli , C , Burglen , L , Qebibo , L , Calame , D G , Mitani , T , Marafi , D , Pehlivan , D , Saadi , N W , Sahin , Y , Maroofian , R , Efthymiou , S , Houlden , H , Maqbool , S , Rahman , F , Gu , S , Posey , J E , Lupski , J R , Hunter , J , Wangler , M F , Carroll , C J & Yang , Y 2021 , ' MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia ' , Annals of Neurology , vol. 89 , no. 4 , pp. 828-833 . https://doi.org/10.1002/ana.26019; http://hdl.handle.net/10138/340557; e43a87eb-1dd1-4a12-b9f7-3133b8f49cdc; 000615954700001

الاتاحة: http://hdl.handle.net/10138/340557

المؤلفون: Wong, Yvette C., Kim, Soojin, Cisneros, Jasmine, Molakal, Catherine G., Song, Pingping, Lubbe, Steven J., Krainc, Dimitri

المساهمون: National Cancer Institute, National Institutes of Health, National Institute of Neurological Disorders and Stroke

المصدر: Journal of Cell Biology ; volume 221, issue 10 ; ISSN 0021-9525 1540-8140

الاتاحة: http://dx.doi.org/10.1083/jcb.202206140
https://rupress.org/jcb/article-pdf/doi/10.1083/jcb.202206140/1437888/jcb_202206140.pdf

المؤلفون: Meng, Linyan, Isohanni, Pirjo, Shao, Yunru, Graham, Brett H, Hickey, Scott E, Brooks, Stephanie, Suomalainen, Anu, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Hackenberg, Annette, High, Frances A, Armstrong-Javors, Amy, Mencacci, Niccolò E, Gonzàlez-Latapi, Paulina, Kamel, Walaa A, Al-Hashel, Jasem Y, Bustos, Bernabé I, Hernandez, Alejandro V, Krainc, Dimitri, Lubbe, Steven J, Van Esch, Hilde, De Luca, Chiara, Ballon, Katleen, Ravelli, Claudia, Burglen, Lydie, Qebibo, Leila, Calame, Daniel G, Mitani, Tadahiro, Marafi, Dana

المصدر: Meng, Linyan; Isohanni, Pirjo; Shao, Yunru; Graham, Brett H; Hickey, Scott E; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Hackenberg, Annette; High, Frances A; Armstrong-Javors, Amy; Mencacci, Niccolò E; Gonzàlez-Latapi, Paulina; Kamel, Walaa A; Al-Hashel, Jasem Y; Bustos, Bernabé I; Hernandez, Alejandro V; Krainc, Dimitri; Lubbe, Steven J; Van Esch, Hilde; De Luca, Chiara; Ballon, Katleen; Ravelli, Claudia; Burglen, Lydie; Qebibo, Leila; Calame, Daniel G; Mitani, Tadahiro; Marafi, Dana; et al (2021). MED27 variansts cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Annals of Neurology, 89(4):828-833.

مصطلحات موضوعية: Institute of Medical Genetics, Medical Clinic, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/196942/1/ana.26019.pdf; info:pmid/33443317; urn:issn:0364-5134

الاتاحة: https://www.zora.uzh.ch/id/eprint/196942/
https://www.zora.uzh.ch/id/eprint/196942/1/ana.26019.pdf
https://doi.org/10.1002/ana.26019

المؤلفون: Kuipers, Demy J.S., Mandemakers, Wim, Lu, Chin Song, Olgiati, Simone, Breedveld, Guido J., Fevga, Christina, Tadic, Vera, Carecchio, Miryam, Osterman, Bradley, Sagi-Dain, Lena, Wu-Chou, Yah Huei, Chen, Chiung C., Chang, Hsiu Chen, Wu, Shey Lin, Yeh, Tu Hsueh, Weng, Yi Hsin, Elia, Antonio E., Panteghini, Celeste, Marotta, Nicolas, Pauly, Martje G., Kühn, Andrea A., Volkmann, Jens, Lace, Baiba, Meijer, Inge A., Kandaswamy, Krishna, Quadri, Marialuisa, Garavaglia, Barbara, Lohmann, Katja, Bauer, Peter, Mencacci, Niccolò E., Lubbe, Steven J., Klein, Christine, Bertoli-Avella, Aida M., Bonifati, Vincenzo

المصدر: Kuipers , D J S , Mandemakers , W , Lu , C S , Olgiati , S , Breedveld , G J , Fevga , C , Tadic , V , Carecchio , M , Osterman , B , Sagi-Dain , L , Wu-Chou , Y H , Chen , C C , Chang , H C , Wu , S L , Yeh , T H , Weng , Y H , Elia , A E , Panteghini , C , Marotta , N , Pauly , M G , Kühn , A A , Volkmann , ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/273e0ee6-e82d-4df9-b05b-b35f9269d9c5
https://doi.org/10.1002/ana.25973
https://pure.eur.nl/ws/files/54562075/EIF2AK2_Missense_Variants_Associated_with_Early_Onset_Generalized_Dystonia.pdf
http://www.scopus.com/inward/record.url?scp=85097551907&partnerID=8YFLogxK

المؤلفون: Lubbe, Steven J., Bustos, Bernabe I., Hu, Jing, Krainc, Dimitri, Joseph, Theresita, Hehir, Jason, Tan, Manuela, Zhang, Weijia, Escott-Price, Valentina, Williams, Nigel M., Blauwendraat, Cornelis, Singleton, Andrew B., Morris, Huw R.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/140346/1/ddaa273.pdf; Lubbe, Steven J., Bustos, Bernabe I., Hu, Jing, Krainc, Dimitri, Joseph, Theresita, Hehir, Jason, Tan, Manuela, Zhang, Weijia, Escott-Price, Valentina https://orca.cardiff.ac.uk/view/cardiffauthors/A015705M.html orcid:0000-0003-1784-5483 orcid:0000-0003-1784-5483, Williams, Nigel M. https://orca.cardiff.ac.uk/view/cardiffauthors/A0001924.html orcid:0000-0003-1177-6931 orcid:0000-0003-1177-6931, Blauwendraat, Cornelis, Singleton, Andrew B. and Morris, Huw R. 2021. Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk. Human Molecular Genetics 30 (1) , pp. 78-86. 10.1093/hmg/ddaa273 https://doi.org/10.1093/hmg%2Fddaa273 file https://orca.cardiff.ac.uk/id/eprint/140346/1/ddaa273.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/140346/
https://doi.org/10.1093/hmg/ddaa273
https://orca.cardiff.ac.uk/id/eprint/140346/1/ddaa273.pdf

المؤلفون: Zech, Michael, Kumar, Kishore R., Reining, Sophie, Reunert, Janine, Tchan, Michel, Riley, Lisa G., Drew, Alexander P., Adam, Robert J., Berutti, Riccardo, Biskup, Saskia, Derive, Nicolas, Bakhtiari, Somayeh, Jin, Sheng Chih, Kruer, Michael C., Bardakjian, Tanya, Gonzalez‐Alegre, Pedro, Keller Sarmiento, Ignacio J., Mencacci, Niccolo E., Lubbe, Steven J., Kurian, Manju A., Clot, Fabienne, Méneret, Aurélie, Sainte Agathe, Jean‐Madeleine, Fung, Victor S.C., Vidailhet, Marie, Baumann, Matthias, Marquardt, Thorsten, Winkelmann, Juliane, Boesch, Sylvia

المساهمون: Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine

المصدر: Movement Disorders

مصطلحات موضوعية: AOPEP, genomic analysis, loss-of-function variants, monogenic dystonia, rare disease

Relation: Zech, M., Kumar, K. R., Reining, S., Reunert, J., Tchan, M., Riley, L. G., Drew, A. P., Adam, R. J., Berutti, R., Biskup, S., Derive, N., Bakhtiari, S., Jin, S. C., Kruer, M. C., Bardakjian, T., Gonzalez-Alegre, P., Keller Sarmiento, I. J., Mencacci, N. E., Lubbe, S. J., … Boesch, S. (2021). Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Movement Disorders.; http://hdl.handle.net/10150/662083; Movement Disorders

الاتاحة: http://hdl.handle.net/10150/662083
https://doi.org/10.1002/mds.28804

المؤلفون: Simkin, Dina, Marshall, Kelly A., Vanoye, Carlos G., Desai, Reshma R., Bustos, Bernabe I., Piyevsky, Brandon N., Ortega Cano, Juan Alberto, Forrest, Marc, Robertson, Gabriella L., Penzes, Peter, Laux, Linda C., Lubbe, Steven J., Millichap, John J., George Jr, Alfred L., Kiskinis, Evangelos

المصدر: Articles publicats en revistes (Patologia i Terapèutica Experimental)

مصطلحات موضوعية: Canals de potassi, Neurones, Cèl·lules mare, Malalties neonatals, Potassium channels, Neurons, Stem cells, Neonatal diseases

وصف الملف: 32 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.7554/eLife.64434; eLife, 2021; https://doi.org/10.7554/eLife.64434; http://hdl.handle.net/2445/185597; 713968

الاتاحة: http://hdl.handle.net/2445/185597

المؤلفون: Bustos, Bernabe I, Billingsley, Kimberley, Blauwendraat, Cornelis, Gibbs, J Raphael, Gan-Or, Ziv, Krainc, Dimitri, Singleton, Andrew B, Lubbe, Steven J

المصدر: Brain

مصطلحات موضوعية: Original Article, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e53949d7b87bf4e7cbb7b62c74fdb5f
https://doi.org/10.1093/brain/awac301

المؤلفون: Steel, Dora, Zech, Michael, Zhao, Chen, Barwick, Katy Es, Burke, Derek, Demailly, Diane, Kumar, Kishore R, Zorzi, Giovanna, Nardocci, Nardo, Kaiyrzhanov, Rauan, Wagner, Matias, Iuso, Arcangela, Berutti, Riccardo, Škorvánek, Matej, Necpál, Ján, Davis, Ryan, Wiethoff, Sarah, Mankad, Kshitij, Sudhakar, Sniya, Ferrini, Arianna, Sharma, Suvasini, Kamsteeg, Erik-Jan, Tijssen, Marina A, Verschuuren, Corien, van Egmond, Martje E, Flowers, Joanna M, McEntagart, Meriel, Tucci, Arianna, Coubes, Philippe, Bustos, Bernabe I, Gonzalez-Latapi, Paulina, Tisch, Stephen, Darveniza, Paul, Gorman, Kathleen M, Peall, Kathryn J, Bötzel, Kai, Koch, Jan C, Kmieć, Tomasz, Plecko, Barbara, Boesch, Sylvia, Haslinger, Bernhard, Jech, Robert, Garavaglia, Barbara, Wood, Nick, Houlden, Henry, Gissen, Paul, Lubbe, Steven J, Sue, Carolyn M, Cif, Laura, Mencacci, Niccolò E

المصدر: Genomics England Research Consortium , Steel , D , Zech , M , Zhao , C , Barwick , K E , Burke , D , Demailly , D , Kumar , K R , Zorzi , G , Nardocci , N , Kaiyrzhanov , R , Wagner , M , Iuso , A , Berutti , R , Škorvánek , M , Necpál , J , Davis , R , Wiethoff , S , Mankad , K , Sudhakar , S , Ferrini , A , Sharma , S , Kamsteeg , E-J , Tijssen , M A ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/1a1ad90a-f2ce-4725-a997-f0ece20786a9
https://research.rug.nl/en/publications/1a1ad90a-f2ce-4725-a997-f0ece20786a9
https://doi.org/10.1002/ana.25879
https://pure.rug.nl/ws/files/154955933/Loss_of_Function_Variants_in_HOPS_Complex_Genes_VPS16_and_VPS41_Cause_Early_Onset_Dystonia_Associated_with_Lysosomal_Abnormalities.pdf

المؤلفون: Senkevich, Konstantin, Bandres-Ciga, Sara, Cisterna-García, Alejandro, Yu, Eric, Bustos, Bernabe I., Krohn, Lynne, Lubbe, Steven J., Botía, Juan A., Gan-Or, Ziv

المصدر: medRxiv

مصطلحات موضوعية: Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmc_________::8efc64c2e7dbec3b49deeb5d35ff0e5f
https://europepmc.org/articles/PMC10246147/

المؤلفون: Lamb, Ruth, Rohrer, Jonathan D., Real, Raquel, Lubbe, Steven J., Waite, Adrian J., Blake, Derek J., Walters, R. Jon, Lashley, Tammaryn, Revesz, Tamas, Holton, Janice L., Morris, Huw R.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/123221/7/Cold%20Spring%20Harb%20Mol%20Case%20Stud-2019-Lamb-.pdf; Lamb, Ruth, Rohrer, Jonathan D., Real, Raquel, Lubbe, Steven J., Waite, Adrian J., Blake, Derek J. https://orca.cardiff.ac.uk/view/cardiffauthors/A109593L.html orcid:0000-0002-5005-4731 orcid:0000-0002-5005-4731, Walters, R. Jon, Lashley, Tammaryn, Revesz, Tamas, Holton, Janice L. and Morris, Huw R. 2019. A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders. Molecular Case Studies 5 (3) , a003913. 10.1101/mcs.a003913 https://doi.org/10.1101/mcs.a003913 file https://orca.cardiff.ac.uk/id/eprint/123221/7/Cold%20Spring%20Harb%20Mol%20Case%20Stud-2019-Lamb-.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/123221/
https://doi.org/10.1101/mcs.a003913
https://orca.cardiff.ac.uk/id/eprint/123221/7/Cold%20Spring%20Harb%20Mol%20Case%20Stud-2019-Lamb-.pdf

المؤلفون: Jansen, Iris E., Ye, Hui, Heetveld, Sasja, Lechler, Marie C., Michels, Helen, Seinstra, Renée I., Lubbe, Steven J., Drouet, Valérie, Lesage, Suzanne, Majounie, Elisa, Gibbs, J. Raphael, Nalls, Mike A., Ryten, Mina, Botia, Juan A., Vandrovcova, Jana, Simon-Sanchez, Javier, Castillo-Lizardo, Melissa, Rizzu, Patrizia, Blauwendraat, Cornelis, Chouhan, Amit K., Li, Yarong, Yogi, Puja, Amin, Najaf, van Duijn, Cornelia M., Morris, Huw R., Brice, Alexis, David, Della C., Singleton, Andrew B., Nollen, Ellen A., Jain, Shushant, Shulman, Joshua M., Heutink, Peter, Burn, David J., Walker, Robert, Morrison, Karen

وصف الملف: text

Relation: https://eprints.soton.ac.uk/417055/1/s13059_017_1147_9.pdf; Jansen, Iris E., Ye, Hui, Heetveld, Sasja, Lechler, Marie C., Michels, Helen, Seinstra, Renée I., Lubbe, Steven J., Drouet, Valérie, Lesage, Suzanne, Majounie, Elisa, Gibbs, J. Raphael, Nalls, Mike A., Ryten, Mina, Botia, Juan A., Vandrovcova, Jana, Simon-Sanchez, Javier, Castillo-Lizardo, Melissa, Rizzu, Patrizia, Blauwendraat, Cornelis, Chouhan, Amit K., Li, Yarong, Yogi, Puja, Amin, Najaf, van Duijn, Cornelia M., Morris, Huw R., Brice, Alexis, David, Della C., Singleton, Andrew B., Nollen, Ellen A., Jain, Shushant, Shulman, Joshua M. and Heutink, Peter , International Parkinson's Disease Genetics Consortium (IPGDC) (2017) Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Genome Biology, 18 (22), 1-26, [22]. (doi:10.1186/s13059-017-1147-9 ).

الاتاحة: https://eprints.soton.ac.uk/417055/
https://eprints.soton.ac.uk/417055/1/s13059_017_1147_9.pdf