المؤلفون: Christian Rummey, Susan Perlman, Sub. H. Subramony, Jennifer Farmer, David R. Lynch

المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1290-1300 (2024)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/b24df4bc64ff45a082bac95a6a27f01d

المؤلفون: Gilbert J. L’Italien, Evangelos K. Oikonomou, Rohan Khera, Michele H. Potashman, Melissa W. Beiner, Grant D. H. Maclaine, Jeremy D. Schmahmann, Susan Perlman, Vladimir Coric

المصدر: Neurology and Therapy, Vol 13, Iss 4, Pp 1287-1301 (2024)

مصطلحات موضوعية: Troriluzole, Spinocerebellar ataxia, Kinematic analysis, Video, Artificial intelligence, Pose dispersion index, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2193-8253; https://doaj.org/toc/2193-6536

URL الوصول: https://doaj.org/article/e65dfa5c2a1c488283098a6bda2608dc

المؤلفون: David R. Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Susan Perlman, S.H. Subramony, George Wilmot, Theresa Zesiewicz, Lisa Weissfeld, Colin Meyer

المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 1, Pp 4-16 (2024)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/cae541cd926943679e42402f8027f507

المؤلفون: Layne N. Rodden, Christian Rummey, Yi Na Dong, Sarah Lagedrost, Sean Regner, Alicia Brocht, Khalaf Bushara, Martin B. Delatycki, Christopher M. Gomez, Katherine Mathews, Sarah Murray, Susan Perlman, Bernard Ravina, S. H. Subramony, George Wilmot, Theresa Zesiewicz, Alessandra Bolotta, Alain Domissy, Christine Jespersen, Baohu Ji, Elisabetta Soragni, Joel M. Gottesfeld, David R. Lynch

المصدر: Frontiers in Molecular Biosciences, Vol 9 (2022)

مصطلحات موضوعية: ataxia, mitochondrion, modifier, clinical trial, mRNA profiling, SIRT6, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2022.933788/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/fc3b8365f48643339b44ac26a1d1ebf4

المؤلفون: Christian Rummey, John M. Flynn, Louise A. Corben, Martin B. Delatycki, George Wilmot, Sub H. Subramony, Khalaf Bushara, Antoine Duquette, Christopher M. Gomez, J. Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine D. Mathews, Theresa Zesiewicz, Susan Perlman, David R. Lynch

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1239-1250 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/a2cb84dbe2df4c25be195148b462d7da

المؤلفون: Marissa Z McMackin, Blythe Durbin-Johnson, Marek Napierala, Jill S Napierala, Luis Ruiz, Eleonora Napoli, Susan Perlman, Cecilia Giulivi, Gino A Cortopassi

المصدر: PLoS ONE, Vol 14, Iss 10, p e0223209 (2019)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/cfc0a2f55fe843d7ae56bd41d17e2c48

المؤلفون: Shi-Rui Gan, Jie Wang, Karla P. Figueroa, Stefan M. Pulst, Darya Tomishon, Danielle Lee, Susan Perlman, George Wilmot, Christopher ‎ M. Gomez, Jeremy Schmahmann, Henry Paulson, Vikramq G. Shakkottai, Sarah H. Ying, Theresa Zesiewicz, Khalaf Bushara, Michael D. Geschwind, Guangbin Xia, S. H. Subramony, Tetsuo Ashizawa, Sheng-Han Kuo

المصدر: Tremor and Other Hyperkinetic Movements, Vol 7 (2017)

مصطلحات موضوعية: Diseases of the musculoskeletal system, RC925-935, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://tremorjournal.org/index.php/tremor/article/view/492; https://doaj.org/toc/2160-8288

URL الوصول: https://doaj.org/article/c8b087a6a56b4837b9e9fa4a4913c633

المؤلفون: Raymond Y. Lo, Karla P. Figueroa, Stefan M. Pulst, Chi-Ying Lin, Susan Perlman, George Wilmot, Christopher M. Gomez, Jeremy Schmahmann, Henry Paulson, Vikram G. Shakkottai, Sarah H. Ying, Theresa Zesiewicz, Khalaf Bushara, Michael Geschwind, Guangbin Xia, S S. Subramony, Tetsuo Ashizawa, Sheng-Han Kuo

المصدر: Tremor and Other Hyperkinetic Movements, Vol 5 (2015)

مصطلحات موضوعية: Diseases of the musculoskeletal system, RC925-935, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://tremorjournal.org/index.php/tremor/article/view/287; https://doaj.org/toc/2160-8288

URL الوصول: https://doaj.org/article/14b395d8005b41a98fd41890a80fb7eb

المؤلفون: Thomas Klockgether, Matthis Synofzik, AGI working group on COAs and Registries: Saud Alhusaini, Mathieu Anheim, Irina Antonijevic, Tee Ashizawa, Luis Bataller, Mélanie Berard, Enrico Bertini, Sylvia Boesch, Pedro Braga-Neto, Emanuel Cassou, Edwin Chan, Rosalind Chuang, Abbie Collins, Joana Damásio, Karina Donis, Antoine Duquette, João Durães, Alexandra Durr, Rebecca Evans, Jennifer Faber, Jennifer Farmer, Vincenzo Gennarino, Holm Graessner, Marcus Grobe-Einsler, Hasmet Hanagasie, Morteza Heidari, Henry Houlden, Elisabetta Indelicato, Kinya Ishikawa, Heike Jacobi, Laura Jardim, Yaz Kisanuki, Svetlana Kopishinskaia, Gilbert L ́Italien, Roderick Maas, Michelangelo Mancuso, Caterina Mariotti, Norlinah Mohamed Ibrahim, Wolfgang Nachbauer, Andrea Nemeth, Yi Shiau Ng, Katja Obieglo, Osamu Onodera, Puneet Opal, Luis Pereira de Almeida, Susan Perlman, Guido Primiano, Mathilde Renaud, Liana Rosenthal, Francesco Saccà, Zahid Sattar, Tanja Schmitz-Hübsch, Ludger Schöls, Rebecca Schüle, Lauren Seeberger, Gabriella Silvestri, Anna Sobanska, Bin-Weng Soong, Achal Kumar Srivastava, Colleen Stoyas, Sophie Tezenas du Montcel, Andreas Thieme, Dagmar Timmann, Adina Tocoian, Andreas Traschütz, Bart van de Warrenburg, Wolfram Ziegler

المساهمون: Klockgether, Thoma, Synofzik, Matthi, working group on COAs and Registries: Saud Alhusaini, Agi, Anheim, Mathieu, Antonijevic, Irina, Ashizawa, Tee, Bataller, Lui, Berard, Mélanie, Bertini, Enrico, Boesch, Sylvia, Braga-Neto, Pedro, Cassou, Emanuel, Chan, Edwin, Chuang, Rosalind, Collins, Abbie, Damásio, Joana, Donis, Karina, Duquette, Antoine, Durães, João, Durr, Alexandra, Evans, Rebecca, Faber, Jennifer, Farmer, Jennifer, Gennarino, Vincenzo, Graessner, Holm, Grobe-Einsler, Marcu, Hanagasie, Hasmet, Heidari, Morteza, Houlden, Henry, Indelicato, Elisabetta, Ishikawa, Kinya, Jacobi, Heike, Jardim, Laura, Kisanuki, Yaz, Kopishinskaia, Svetlana, L ́italien, Gilbert, Maas, Roderick, Mancuso, Michelangelo, Mariotti, Caterina, Mohamed Ibrahim, Norlinah, Nachbauer, Wolfgang, Nemeth, Andrea, Shiau Ng, Yi, Obieglo, Katja, Onodera, Osamu, Opal, Puneet, Pereira de Almeida, Lui, Perlman, Susan, Primiano, Guido, Renaud, Mathilde, Rosenthal, Liana, Saccà, Francesco, Sattar, Zahid, Schmitz-Hübsch, Tanja, Schöls, Ludger, Schüle, Rebecca, Seeberger, Lauren, Silvestri, Gabriella, Sobanska, Anna, Soong, Bin-Weng, Kumar Srivastava, Achal, Stoyas, Colleen, Tezenas du Montcel, Sophie, Thieme, Andrea, Timmann, Dagmar, Tocoian, Adina, Traschütz, Andrea, van de Warrenburg, Bart, Ziegler, Wolfram

مصطلحات موضوعية: Activities of daily living (ADL), Ataxia, Clinical outcome assessment (COA), Scale for the assessment and rating of ataxia (SARA), Standardization

Relation: info:eu-repo/semantics/altIdentifier/pmid/37020147; info:eu-repo/semantics/altIdentifier/wos/WOS:000963664900001; volume:23; issue:3; firstpage:924; lastpage:930; numberofpages:7; journal:THE CEREBELLUM; https://hdl.handle.net/11568/1172225; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85151668891; https://link.springer.com/article/10.1007/s12311-023-01547-z

الاتاحة: https://hdl.handle.net/11568/1172225
https://doi.org/10.1007/s12311-023-01547-z
https://link.springer.com/article/10.1007/s12311-023-01547-z

المؤلفون: David R. Lynch, Melanie P. Chin, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, Angie Goldsberry, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Megan O'Grady, Susan Perlman, S.H. Subramony, George Wilmot, Theresa Zesiewicz, Colin J. Meyer

المصدر: Movement Disorders. 38:313-320

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7faac5c99bd00c922f5f9a591350dce
https://doi.org/10.1002/mds.29286

المؤلفون: Michael J. Brownstein, Neal G. Simon, Jeffrey D. Long, Jon Yankey, Hilda T. Maibach, Merit Cudkowicz, Christopher Coffey, Robin A. Conwit, Codrin Lungu, Karen E. Anderson, Steven M. Hersch, Dixie J. Ecklund, Eve M. Damiano, Debra E. Itzkowitz, Shifang Lu, Marianne K. Chase, Jeremy M. Shefner, Andrew McGarry, Brenda Thornell, Catherine Gladden, Michele Costigan, Padraig O'Suilleabhain, Frederick J. Marshall, Amy M. Chesire, Paul Deritis, Jamie L. Adams, Peter Hedera, Kelly Lowen, H. Diana Rosas, Amie L. Hiller, Joseph Quinn, Kellie Keith, Andrew P. Duker, Christina Gruenwald, Angela Molloy, Cara Jacob, Stewart Factor, Elaine Sperin, Danny Bega, Zsazsa R. Brown, Lauren C. Seeberger, Victor W. Sung, Melanie Benge, Sandra K. Kostyk, Allison M. Daley, Susan Perlman, Valerie Suski, Patricia Conlon, Matthew J. Barrett, Stephanie Lowenhaupt, Mark Quigg, Joel S. Perlmutter, Brenton A. Wright, Elaine Most, Guy J. Schwartz, Jessica Lamb, Rosalind S. Chuang, Carlos Singer, Karen Marder, Joyce A. Moran, John R. Singleton, Meghan Zorn, Paola V. Wall, Richard M. Dubinsky, Carolyn Gray, Carolyn Drazinic

المصدر: Journal of Clinical Medicine; Volume 9; Issue 11; Pages: 3682

مصطلحات موضوعية: Huntington’s disease, safety, tolerability, vasopressin 1a receptor antagonist

وصف الملف: application/pdf

Relation: Clinical Neurology; https://dx.doi.org/10.3390/jcm9113682

الاتاحة: https://doi.org/10.3390/jcm9113682

المؤلفون: Adys Mendizabal, Susan Perlman, Yvette Bordelon

المصدر: Sunday, April 23.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9a7723c97e8e74d3fe24340287b58ae5
https://doi.org/10.1212/wnl.0000000000203753

المؤلفون: Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Lagana, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel.

المساهمون: Ngo, Kathie, Aker, Mamdouh, Petty, Lauren E., Chen, Jason, Cavalcanti, Francesca, Nelson, Alexandra B., Hassin-Baer, Sharon, Geschwind, Michael D., Perlman, Susan, Italiano, Domenico, Lagana', Angelina, Cavallaro, Sebastiano, Coppola, Giovanni, Below, Jennifer E., L. Fogel., Brent

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/29629410; info:eu-repo/semantics/altIdentifier/wos/WOS:000436428400001; volume:4; issue:3; firstpage:1; lastpage:4; numberofpages:4; journal:NEUROLOGY. GENETICS; http://hdl.handle.net/11570/3126131; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85054480324; https://ng.neurology.org/content/4/3/e232

الاتاحة: http://hdl.handle.net/11570/3126131
https://doi.org/10.1212/NXG.0000000000000232
https://ng.neurology.org/content/4/3/e232

المؤلفون: Vrutangkumar V. Shah, Susan Perlman, Luis Velázquez-Pérez, Liana S. Rosenthal, Jeremy D. Schmahmann, Christopher M. Gomez, James McNames, Kyra Hansson Floyd, Fay B. Horak, Mahmoud El-Gohary, Roberto Rodríguez-Labrada, Hannah L Casey

المصدر: Movement Disorders. 36:2922-2931

مصطلحات موضوعية: medicine.medical_specialty, Ataxia, Receiver operating characteristic, business.industry, Walking, medicine.disease, Wearable inertial sensors, Wearable Electronic Devices, Gait (human), Physical medicine and rehabilitation, Neurology, Disease severity, Quantitative assessment, medicine, Spinocerebellar ataxia, Humans, Spinocerebellar Ataxias, Neurology (clinical), medicine.symptom, business, Gait, Gait Disorders, Neurologic, Face validity

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecf27cd204788ce416cbcf7be6c1e43d
https://doi.org/10.1002/mds.28740

المؤلفون: J. Chad Hoyle, S. H. Subramony, John M. Flynn, Theresa A. Zesiewicz, Louise A. Corben, Christian Rummey, Katherine D. Mathews, George Wilmot, Lauren Seeberger, Antoine Duquette, David A. Lynch, Grace Yoon, Khalaf Bushara, Richard Roxburgh, Martin B. Delatycki, Susan Perlman, Christopher M. Gomez

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1239-1250 (2021)

مصطلحات موضوعية: 0301 basic medicine, Adult, Pediatrics, medicine.medical_specialty, Ataxia, Adolescent, Neurosciences. Biological psychiatry. Neuropsychiatry, Scoliosis, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Prevalence, Humans, Longitudinal Studies, Age of Onset, RC346-429, Child, Research Articles, business.industry, General Neuroscience, Incidence (epidemiology), Middle Aged, medicine.disease, Comorbidity, Natural history, 030104 developmental biology, Friedreich Ataxia, Cohort, Disease Progression, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, Age of onset, business, 030217 neurology & neurosurgery, Natural history study, RC321-571, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3033a09bc54dc45180d9480c5edd3dd6
http://europepmc.org/articles/PMC8164850

المؤلفون: David R. Lynch, Katherine D. Mathews, Susan Perlman, Theresa Zesiewicz, Sub Subramony, Omid Omidvar, Adam P. Vogel, Ana Krtolica, Nadia Litterman, Lex van der Ploeg, Frederic Heerinckx, Peter Milner, Mark Midei

المصدر: Journal of neurology.

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9b4b7205ef5ec666572b45ac2481e0d
https://pubmed.ncbi.nlm.nih.gov/36462055

المؤلفون: David R Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Susan Perlman, S.H. Subramony, George Wilmot, Theresa Zesiewicz, Lisa Weissfeld, Colin Meyer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::72444e0813397eb11044ce60e8b8f3c4
https://doi.org/10.1101/2022.08.12.22278684

المؤلفون: David A. Lynch, Megan O'Grady, Wolfgang Nachbauer, Theresa A. Zesiewicz, Angie Goldsberry, S. H. Subramony, Melanie P. Chin, Colin J. Meyer, Caterina Mariotti, Manuela Corti, J. Chad Hoyle, Martin B. Delatycki, Sylvia Boesch, Susan Perlman, Paola Giunti, Katherine D. Mathews, George Wilmot

المصدر: Annals of Neurology

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Ataxia, Adolescent, Bilirubin, Nausea, NF-E2-Related Factor 2, Placebo, Antioxidants, law.invention, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Randomized controlled trial, Double-Blind Method, law, Internal medicine, Activities of Daily Living, Medicine, Humans, Young adult, Research Articles, Omaveloxolone, business.industry, Triterpenes, Mitochondria, Clinical trial, Oxidative Stress, 030104 developmental biology, Treatment Outcome, Neurology, chemistry, Friedreich Ataxia, Exercise Test, Accidental Falls, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Research Article, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11b4c335d9b32c20ffbf7cba26690a73
http://europepmc.org/articles/PMC7894504

المؤلفون: Florian Krismer, Jose‐Alberto Palma, Giovanna Calandra‐Buonaura, Iva Stankovic, Luca Vignatelli, Anna‐Karin Berger, Cristian Falup‐Pecurariu, Alexandra Foubert‐Samier, Günter Höglinger, Horacio Kaufmann, Larry Kellerman, Han‐Joon Kim, Thomas Klockgether, Johannes Levin, Pablo Martinez‐Martin, Tiago A. Mestre, Maria Teresa Pellecchia, Susan Perlman, Irfan Qureshi, Olivier Rascol, Anette Schrag, Klaus Seppi, Huifang Shang, Glenn T. Stebbins, Gregor K. Wenning, Wolfgang Singer, Wassilios G. Meissner

المساهمون: Krismer, Florian, Palma, Jose-Alberto, Calandra-Buonaura, Giovanna, Stankovic, Iva, Vignatelli, Luca, Berger, Anna-Karin, Falup-Pecurariu, Cristian, Foubert-Samier, Alexandra, Höglinger, Günter, Kaufmann, Horacio, Kellerman, Larry, Kim, Han-Joon, Klockgether, Thoma, Levin, Johanne, Martinez-Martin, Pablo, Mestre, Tiago A, Pellecchia, Maria Teresa, Perlman, Susan, Qureshi, Irfan, Rascol, Olivier, Schrag, Anette, Seppi, Klau, Shang, Huifang, Stebbins, Glenn T, Wenning, Gregor K, Singer, Wolfgang, Meissner, Wassilios G

المصدر: Movement disorders 37(12), 2336-2341 (2022). doi:10.1002/mds.29215

مصطلحات موضوعية: Disability Evaluation, Neurology, diagnosis [Multiple System Atrophy], Humans, Neurology (clinical), ddc:610, Multiple System Atrophy, Severity of Illness Index, MSA, SCALE, CRITIQUE, Recommendations

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c1eb134073eff2a107f13504978162d
https://hdl.handle.net/11386/4814530

المؤلفون: Layne N. Rodden, Christian Rummey, Yi Na Dong, Sarah Lagedrost, Sean Regner, Alicia Brocht, Khalaf Bushara, Martin B. Delatycki, Christopher M. Gomez, Katherine Mathews, Sarah Murray, Susan Perlman, Bernard Ravina, S. H. Subramony, George Wilmot, Theresa Zesiewicz, Alessandra Bolotta, Alain Domissy, Christine Jespersen, Baohu Ji, Elisabetta Soragni, Joel M. Gottesfeld, David R. Lynch

مصطلحات موضوعية: Biochemistry, Molecular Biology, Structural Biology, Enzymes, Protein Trafficking, Proteomics and Intermolecular Interactions (excl. Medical Proteomics), Receptors and Membrane Biology, Signal Transduction, Structural Biology (incl. Macromolecular Modelling), Synthetic Biology, ataxia, mitochondrion, modifier, clinical trial, mRNA profiling, SIRT6, epigenetic

Relation: https://figshare.com/articles/dataset/DataSheet1_A_non-synonymous_single_nucleotide_polymorphism_in_SIRT6_predicts_neurological_severity_in_Friedreich_ataxia_PDF/20923756

الاتاحة: https://doi.org/10.3389/fmolb.2022.933788.s001
https://figshare.com/articles/dataset/DataSheet1_A_non-synonymous_single_nucleotide_polymorphism_in_SIRT6_predicts_neurological_severity_in_Friedreich_ataxia_PDF/20923756