المؤلفون: Thomas, Florian P, Brannagan, Thomas H, Butterfield, Russell J, Desai, Urvi, Habib, Ali A, Herrmann, David N, Eichinger, Katy J, Johnson, Nicholas E, Karam, Chafic, Pestronk, Alan, Quinn, Colin, Shy, Michael E, Statland, Jeffrey M, Subramony, Sub H, Walk, David, Stevens-Favorite, Katherine, Miller, Barry, Leneus, Ashley, Fowler, Marcie, van de Rijn, Marc, Attie, Kenneth M

المصدر: Neurology. 98(23)

مصطلحات موضوعية: Rare Diseases, Clinical Trials and Supportive Activities, Charcot-Marie-Tooth Disease, Neurosciences, Clinical Research, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/33g3d6jq

المؤلفون: Kovalchick, Laurel V, Bates, Kameron, Statland, Jeffrey, Weihl, Conrad, Kang, Peter B, Lowes, Linda P, Mozaffar, Tahseen, Straub, Volker, Wicklund, Matthew, Heatwole, Chad, Johnson, Nicholas E

المصدر: Neuromuscular Disorders. 32(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Intellectual and Developmental Disabilities (IDD), Muscular Dystrophy, Brain Disorders, Clinical Research, Rare Diseases, Management of diseases and conditions, 7.1 Individual care needs, Adolescent, Adult, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Muscle Weakness, Muscular Dystrophies, Limb-Girdle, Patient Reported Outcome Measures, Phenotype, Quality of Life, Registries, Surveys and Questionnaires, Young Adult, Quality of life, Limb girdle muscular dystrophy, Patient report, Dysferlin, Calpain-3, FKRP, Dysferlin, Calpain-3, Medical Physiology, Neurology & Neurosurgery, Clinical sciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/71j6q837

المؤلفون: Wencel, Marie, Shaibani, Aziz, Goyal, Namita A, Dimachkie, Mazen M, Trivedi, Jaya, Johnson, Nicholas E, Gutmann, Laurie, Wicklund, Matthew P, Bandyopadhay, Sankar, Genge, Angela L, Freimer, Miriam L, Goyal, Neelam, Pestronk, Alan, Florence, Julaine, Karam, Chafic, Ralph, Jeffrey W, Rasheed, Zinah, Hays, Melissa, Hopkins, Steve, Mozaffar, Tahseen

المصدر: Neurology. Genetics. 7(6)

مصطلحات موضوعية: Genetic Testing, Liver Disease, Digestive Diseases, Chronic Liver Disease and Cirrhosis, Genetics, Rare Diseases, Clinical Research, Neurosciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/47p651w6

المؤلفون: Rudnicki, Stacy A, Andrews, Jinsy A, Duong, Tina, Cockroft, Bettina M, Malik, Fady I, Meng, Lisa, Wei, Jenny, Wolff, Andrew A, Genge, Angela, Johnson, Nicholas E, Tesi-Rocha, Carolina, Connolly, Anne M, Darras, Basil T, Felice, Kevin, Finkel, Richard S, Shieh, Perry B, Mah, Jean K, Statland, Jeffrey, Campbell, Craig, Habib, Ali A, Kuntz, Nancy L, Oskoui, Maryam, Day, John W

المصدر: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 18(2)

مصطلحات موضوعية: Muscle, Skeletal, Humans, Muscular Atrophy, Spinal, Pyridines, Pyrimidines, Pyrroles, Troponin I, Drugs, Investigational, Cohort Studies, Double-Blind Method, Adolescent, Adult, Aged, Middle Aged, Child, Female, Male, Young Adult, Walk Test, Reldesemtiv, pharmacodynamics, pharmacokinetics, six-minute walk test, spinal muscular atrophy clinical trial, Rare Diseases, Clinical Trials and Supportive Activities, Clinical Research, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Neurosciences, Pharmacology and Pharmaceutical Sciences, Public Health and Health Services, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7vp6328w
https://escholarship.org/content/qt7vp6328w/qt7vp6328w.pdf

المؤلفون: Hartman, Julia M., Ikegami, Kobe, Provenzano, Marina, Bates, Kameron, Butler, Amanda, Jones, Aileen S., Berggren, Kiera N., Dekdebrun, Jeanne, McKay, Marnee J., Baldwin, Jennifer N., Cornett, Kayla M. D., Burns, Joshua, Kiefer, Michael, Johnson, Nicholas E., Hale, Melissa A.

المساهمون: National Institute of Neurological Disorders and Stroke, U.S. Food and Drug Administration, Myotonic Dystrophy Foundation, Muscular Dystrophy Association, Novartis Pharmaceuticals Corporation, Takeda Pharmaceutical Company

المصدر: Annals of Clinical and Translational Neurology ; volume 11, issue 12, page 3175-3191 ; ISSN 2328-9503 2328-9503

الاتاحة: https://doi.org/10.1002/acn3.52224
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.52224

المؤلفون: Doody, Amy, Alfano, Lindsay, Diaz-Manera, Jordi, Lowes, Linda, Mozaffar, Tahseen, Mathews, Katherine D., Weihl, Conrad C., Wicklund, Matthew, Hung, Man, Statland, Jeffrey, Johnson, Nicholas E., Mathews, Kathy, Leung, Doris, Kang, Peter, Desai, Urvi, Vissing, John, Zingariello, Carla, Dixon, Stacy

المساهمون: Muscular Dystrophy Association, Sarepta Therapeutics, Coalition to Cure Calpain-3, National Center for Advancing Translational Sciences

المصدر: BMC Neurology ; volume 24, issue 1 ; ISSN 1471-2377

الاتاحة: http://dx.doi.org/10.1186/s12883-024-03588-1
https://link.springer.com/content/pdf/10.1186/s12883-024-03588-1.pdf
https://link.springer.com/article/10.1186/s12883-024-03588-1/fulltext.html

المؤلفون: Statland, Jeffrey M, Fontaine, Bertrand, Hanna, Michael G, Johnson, Nicholas E, Kissel, John T, Sansone, Valeria A, Shieh, Perry B, Tawil, Rabi N, Trivedi, Jaya, Cannon, Stephen C, Griggs, Robert C

المصدر: Muscle & Nerve. 57(4)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Prevention, Nutrition, Genetics, Rare Diseases, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Acetazolamide, Andersen Syndrome, Anti-Arrhythmia Agents, Behavior Therapy, Carbonic Anhydrase Inhibitors, Diuretics, Diuretics, Potassium Sparing, Humans, Hydrochlorothiazide, Hypokalemic Periodic Paralysis, Paralyses, Familial Periodic, Paralysis, Hyperkalemic Periodic, Potassium, acetazolamide, Andersen-Tawil syndrome, channelopathies, dichlorphenamide, periodic paralyses, review, treatment, Medical and Health Sciences, Neurology & Neurosurgery, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0d47m060

المؤلفون: Johnson, Nicholas E.

مصطلحات موضوعية: 307.760285, HD Industries. Land use. Labor, HT Communities. Classes. Races, QA76 Electronic computers. Computer science. Computer software, TD Environmental technology. Sanitary engineering

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.809157

المؤلفون: Johnson, Nicholas E.

المصدر: Samuel Beckett Today / Aujourd'hui, 2020 Jan 01. 32(1), 86-103.

URL الوصول: https://www.jstor.org/stable/27142189

المؤلفون: Trucco, Federica, Albamonte, Emilio, Pane, Marika, Ricci, Federica, D'amico, Adele, Astrea, Guja, Moroni, Isabella, Pini, Antonella, Fiorillo, Chiara, Berardinelli, Angela, Johnson, Nicholas E., Sansone, Valeria A., null, null

المساهمون: Trucco, Federica, Albamonte, Emilio, Pane, Marika, Ricci, Federica, D'Amico, Adele, Astrea, Guja, Moroni, Isabella, Pini, Antonella, Fiorillo, Chiara, Berardinelli, Angela, Johnson, Nicholas E., Sansone, Valeria A., Null, Null

Relation: info:eu-repo/semantics/altIdentifier/pmid/39231278; info:eu-repo/semantics/altIdentifier/wos/WOS:001304193800001; journal:DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY; https://hdl.handle.net/11568/1285568

الاتاحة: https://hdl.handle.net/11568/1285568
https://doi.org/10.1111/dmcn.16079

المؤلفون: Trucco, Federica, Lizio, Andrea, Roma, Elisabetta, di Bari, Alessandra, Salmin, Francesca, Albamonte, Emilio, Casiraghi, Jacopo, Pozzi, Susanna, Becchiati, Stefano, Antonaci, Laura, Salvalaggio, Anna, Catteruccia, Michela, Tosi, Michele, Marinella, Gemma, Danti, Federica R., Bruschi, Fabio, Veneruso, Marco, Parravicini, Stefano, Fiorillo, Chiara, Berardinelli, Angela, Pini, Antonella, Moroni, Isabella, Astrea, Guja, Battini, Roberta, D'Amico, Adele, Ricci, Federica, Pane, Marika, Mercuri, Eugenio M., Johnson, Nicholas E., Sansone, Valeria A.

المساهمون: Trucco, Federica, Lizio, Andrea, Roma, Elisabetta, di Bari, Alessandra, Salmin, Francesca, Albamonte, Emilio, Casiraghi, Jacopo, Pozzi, Susanna, Becchiati, Stefano, Antonaci, Laura, Salvalaggio, Anna, Catteruccia, Michela, Tosi, Michele, Marinella, Gemma, Danti, Federica R., Bruschi, Fabio, Veneruso, Marco, Parravicini, Stefano, Fiorillo, Chiara, Berardinelli, Angela, Pini, Antonella, Moroni, Isabella, Astrea, Guja, Battini, Roberta, D'Amico, Adele, Ricci, Federica, Pane, Marika, Mercuri, Eugenio M., Johnson, Nicholas E., Sansone, Valeria A.

مصطلحات موضوعية: childhood myotonic dystrophy type 1, congenital myotonic dystrophy type 1, excessive daytime sleepine, obstructive sleep apnea, sleep-related breathing disorders

Relation: info:eu-repo/semantics/altIdentifier/pmid/39336946; info:eu-repo/semantics/altIdentifier/wos/WOS:001326078600001; volume:13; issue:18; journal:JOURNAL OF CLINICAL MEDICINE; https://hdl.handle.net/11568/1285476

الاتاحة: https://hdl.handle.net/11568/1285476
https://doi.org/10.3390/jcm13185459

المؤلفون: Statland, Jeffrey M., Campbell, Craig, Desai, Urvi, Karam, Chafic, Díaz-Manera, Jordi, Guptill, Jeffrey T., Korngut, Lawrence, Genge, Angela, Tawil, Rabi N., Elman, Lauren, Joyce, Nanette C., Wagner, Kathryn R., Manousakis, Georgios, Amato, Anthony A., Butterfield, Russell J., Shieh, Perry B., Wicklund, Matthew, Gamez, Josep, Bodkin, Cynthia, Pestronk, Alan, Weihl, Conrad C., Vilchez-Padilla, Juan J., Johnson, Nicholas E., Mathews, Katherine D., Miller, Barry, Leneus, Ashley, Fowler, Marcie, van de Rijn, Marc, Attie, Kenneth M.

المساهمون: Neurology, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Facioscapulohumeral muscular dystrophy, FSHD, Randomized, Controlled trial

وصف الملف: application/pdf

Relation: Muscle & Nerve; Statland JM, Campbell C, Desai U, et al. Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2022;66(1):50-62. doi:10.1002/mus.27558; https://hdl.handle.net/1805/34597

الاتاحة: https://hdl.handle.net/1805/34597

المؤلفون: Statland, Jeffrey M., Campbell, Craig, Desai, Urvi, Karam, Chafic, Díaz‐Manera, Jordi, Guptill, Jeffrey T., Korngut, Lawrence, Genge, Angela, Tawil, Rabi N., Elman, Lauren, Joyce, Nanette C., Wagner, Kathryn R., Manousakis, Georgios, Amato, Anthony A., Butterfield, Russell J., Shieh, Perry B., Wicklund, Matthew, Gamez, Josep, Bodkin, Cynthia, Pestronk, Alan, Weihl, Conrad C., Vilchez‐Padilla, Juan J., Johnson, Nicholas E., Mathews, Katherine D., Miller, Barry, Leneus, Ashley, Fowler, Marcie, van de Rijn, Marc, Attie, Kenneth M.

المساهمون: Acceleron

المصدر: Muscle & Nerve ; volume 66, issue 1, page 50-62 ; ISSN 0148-639X 1097-4598

الاتاحة: http://dx.doi.org/10.1002/mus.27558
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.27558
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mus.27558

المؤلفون: Hale, Melissa A, Bates, Kameron, Provenzano, Marina, Johnson, Nicholas E

المساهمون: University of Rochester for the CCMDHI and CMTHI, AMO Pharma, Avidity Biosciences, Triplet Therapeutics, Sarepta, ML Bio, Fulcrum Therapeutics, Vertex Pharmaceuticals, AveXis, Dyne, Food and Drug Administration, Centers for Disease Control and Prevention, National Institutes of Health

المصدر: Human Molecular Genetics ; volume 32, issue 9, page 1413-1428 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddac254
https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddac254/48473265/ddac254.pdf
https://academic.oup.com/hmg/article-pdf/32/9/1413/50045167/ddac254.pdf

المؤلفون: Patel, Namita, Berggren, Kiera N., Hung, Man, Bates, Kameron, Dixon, Melissa M., Bax, Karen, Adams, Heather, Butterfield, Russell J., Campbell, Craig, Johnson, Nicholas E.

المصدر: Neurology ; volume 102, issue 5 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000208115
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000208115

المؤلفون: Stouffer, Joy A., Bates, Kameron, Thacker, Leroy R., Heatwole, Chad, Johnson, Nicholas E.

المساهمون: Muscular Dystrophy Association, National Center for Advancing Translational Sciences

المصدر: Neuromuscular Disorders ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2024.04.008
https://api.elsevier.com/content/article/PII:S0960896624000968?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896624000968?httpAccept=text/plain

المؤلفون: van der Marel, Annemarie, Johnson, Nicholas E., Grillo, Sara, Riquelme, Juan, Vásquez, Rodrigo A., Gillam, Erin H., Ebensperger, Luis A., Hayes, Loren D.

المساهمون: FONDECYT postdoctorado 2022, American Society of Mammalogists, University of Tennessee at Chattanooga, FONDECYT, ANID CHIC, CONICYT PFB

المصدر: Behaviour ; page 1-29 ; ISSN 0005-7959 1568-539X

الاتاحة: http://dx.doi.org/10.1163/1568539x-bja10264
https://brill.com/view/journals/beh/aop/article-10.1163-1568539X-bja10264/article-10.1163-1568539X-bja10264.xml
https://brill.com/downloadpdf/journals/beh/aop/article-10.1163-1568539X-bja10264/article-10.1163-1568539X-bja10264.xml

المؤلفون: Hartman, Julia, Patki, Tejal, Johnson, Nicholas E.

المصدر: JAMA ; volume 331, issue 14, page 1227 ; ISSN 0098-7484

الاتاحة: http://dx.doi.org/10.1001/jama.2024.2511
https://jamanetwork.com/journals/jama/articlepdf/2816421/jama_hartman_2024_it_240007_1712266609.70977.pdf

المؤلفون: Johnson, Nicholas E, Maas, Matthew B, Coleman, Mary, Jozefowicz, Ralph, Engstrom, John

المصدر: Neurology. 79(17)

مصطلحات موضوعية: Health Services, Clinical Research, Quality Education, Adult, Data Collection, Female, Humans, Internship and Residency, Male, Neurology, Neurosciences, United States, Workforce, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/14d5s77j

المؤلفون: Sansone, Valeria A., Johnson, Nicholas E., Hanna, Michael G., Ciafaloni, Emma, Statland, Jeffrey M., Shieh, Perry B., Cohen, Fredric, Griggs, Robert C.

المصدر: Muscle & Nerve ; volume 64, issue 3, page 342-346 ; ISSN 0148-639X 1097-4598

الاتاحة: http://dx.doi.org/10.1002/mus.27354
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.27354
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mus.27354