Results 111 to 120 of about 2,402,153 (291)
Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods
Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews +6 morewiley +1 more sourceImmune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives
T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of Pannathat Soontrapa, Iago Pinal‐Fernandez, Pritikanta Paul, Michael P. Skolka, Margherita Milone, Min Shi, Mithun V. Shah, Maria Casal‐Dominguez, Katherine Pak, Andrew L. Mammen, Teerin Liewluck +10 morewiley +1 more sourceWhole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods
Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca +39 morewiley +1 more sourceSpinal Cord Infarction Versus Idiopathic Transverse Myelitis: Clinical, Radiological, and Functional Insights From a Retrospective Cohort Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction
Spinal cord infarction (SCI) is a rare but devastating myelopathy, characterized by a high disability rate and an unfavorable prognosis. It has often been underdiagnosed and misdiagnosed as idiopathic transverse myelitis (ITM). This study aimed to describe the clinical features, radiological biomarkers, treatments, and functional ...Zeqiang Ji, Jianlong Zhang, Yiming Shi, Shiyu Shan, Yang Du, Guangshuo Li, Ying Jin, Yani Zhang, Chuanying Wang, Yijun Lin, Yuhao Guo, Decai Tian, Xingquan Zhao, Tian Song +13 morewiley +1 more sourceRemote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether +20 morewiley +1 more sourceMeasurement of the gamma gamma* --> eta and gamma gamma* --> eta' transition form factors
, 2011 Comment: 21 pages, 18 postscript figures, published ...Sanchez P. del Amo, Lees J. P., Poireau V., Prencipe E., Tisserand V., Garra Tico J., Grauges E., Martinelli M., Milanes D. A., Palano A., Pappagallo M., Eigen G., Stugu B., Sun L., Brown D. N., Kerth L. T., Kolomensky Y.u. G., Lynch G., Osipenkov I. L., Koch H., Schroeder T., Asgeirsson D. J., Hearty C., Mattison T. S., McKenna J. A., Khan A., Blinov V. E., Botov A. A., Buzykaev A. R., Druzhinin V. P., Golubev V. B., Kravchenko E. A., Onuchin A. P., Serednyakov S. I., Skovpen Y.u. I., Solodov E. P., Todyshev K. Y.u., Yushkov A. N., Bondioli M., Curry S., Kirkby D., Lankford A. J., Mandelkern M., Martin E. C., Stoker D. P., Atmacan H., Gary J. W., Liu F., Long O., Vitug G. M., Campagnari C., Hong T. M., Kovalskyi D., Richman J. D., West C. A., Eisner A. M., Heusch C. A., Kroseberg J., Lockman W. S., Martinez A. J., Schalk T., Schumm B. A., Seiden A., Winstrom L. O., Cheng C. H., Doll D. A., Echenard B., Hitlin D. G., Ongmongkolkul P., Porter F. C., Rakitin A. Y., Andreassen R., Dubrovin M. S., Meadows B. T., Sokoloff M. D., Bloom P. C., Ford W. T., Gaz A., Nagel M., Nauenberg U., Smith J. G., Wagner S. R., Ayad R., Toki W. H., Jasper H., Petzold A., Spaan B., Kobel M. J., Schubert K. R., Schwierz R., Bernard D., Verderi M., Clark P. J., Playfer S., Watson J. E., Andreotti M., Bettoni D., Bozzi C., Calabrese R., Cecchi A., Cibinetto G., Fioravanti E., Franchini P., Garzia I., Luppi E., Munerato M., Negrini M., Petrella A., Piemontese L., Baldini Ferroli R., Calcaterra A., de Sangro R., Finocchiaro G., Nicolaci M., Pacetti S., Patteri P., Peruzzi I. M., Piccolo M., Rama M., Zallo A., Contri R., Guido E., Lo Vetere M., Monge M. R., Passaggio S., Patrignani C., Robutti E., Bhuyan B., Prasad V., Lee C. L., Morii M., Edwards A. J., Adametz A., Marks J., Uwer U., Bernlochner F. U., Ebert M., Lacker H. M., Lueck T., Volk A., Dauncey P. D., Tibbetts M., Behera P. K., Mallik U., Chen C., Cochran J., Crawley H. B., Meyer W. T., Prell S., Rosenberg E. I., Rubin A. E., Gritsan A. V., Guo Z. J., Arnaud N., Davier M., Derkach D., da Costa J. Firmino, Grosdidier G., Le Diberder F., Lutz A. M., Malaescu B., Perez A., Roudeau P., Schune M. H., Serrano J., Sordini V., Stocchi A., Wang L., Wormser G., Lange D. J., Wright D. M., Bingham I., Chavez C. A., Coleman J. P., Fry J. R., Gabathuler E., Hutchcroft D. E., Payne D. J., Touramanis C., Bevan A. J., Di Lodovico F., Sacco R., Sigamani M., Cowan G., Paramesvaran S., Wren A. C., Brown D. N., Davis C. L., Denig A. G., Fritsch M., Gradl W., Hafner A., Alwyn K. E., Bailey D., Barlow R. J., Jackson G., Lafferty G. D., Anderson J., Cenci R., Jawahery A., Dallapiccola C., Sciacca C., Raven G., Corwin L. A., Strube J., Bomben M., CALDERINI, GIOVANNI, Marchiori G., Ocariz J., ANGELINI, CARLO, BATIGNANI, GIOVANNI, BETTARINI, STEFANO, Casarosa G., FORTI, FRANCESCO, GIORGI, MARCELLO, PAOLONI, EUGENIO, RIZZO, GIULIANA, Adye T., de Monchenault G. Hamel, Vasseur G., Benitez J. F., Lewis P., Su D., Bellis M., Lanceri L., Albert J., Banerjee S.w., Kowalewski R., Roney J. M., Latham T. E., Dasu S., Wu S. L. +231 moreopenaire +8 more sources
