Results 71 to 80 of about 745,933 (211)
NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee +7 morewiley +1 more sourceMRI‐Targeted or Standard Biopsy for Prostate‐Cancer Diagnosis
New England Journal of Medicine, 2018 V. Kasivisvanathan, A. Rannikko, M. Borghi, V. Panebianco, L. Mynderse, M. Vaarala, A. Briganti, L. Budäus, G. Hellawell, R. Hindley, M. Roobol, S. Eggener, M. Ghei, A. Villers, F. Bladou, G. Villeirs, J. Virdi, S. Boxler, G. Robert, Paras Singh, W. Venderink, B. Hadaschik, A. Ruffion, Jim C Hu, D. Margolis, S. Crouzet, L. Klotz, S. Taneja, P. Pinto, I. Gill, C. Allen, F. Giganti, A. Freeman, S. Morris, S. Punwani, N. Williams, C. Brew-Graves, J. Deeks, Y. Takwoingi, M. Emberton, C. Moore +40 moresemanticscholar +1 more sourceLong‐Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives
This ongoing, open‐label extension study is evaluating the long‐term safety, tolerability, and efficacy of givinostat, a Class I and II histone deacetylase inhibitor, in patients with Duchenne muscular dystrophy (DMD). Methods
The recruited patients completed one of two prior clinical studies (one Phase 2 and one Phase 3 [EPIDYS ...Craig M. McDonald, Michela Guglieri, Dragana Vučinić, Gyula Acsadi, John F. Brandsema, Claudio Bruno, Erika L. Finanger, Amy Harper, Mercedes Lopez Lobato, Riccardo Masson, Nuria Muelas, Francina Munell, Yoram Nevo, Yann Péréon, Han Phan, Valeria A. Sansone, Mariacristina Scoto, Tracey Willis, Richard S. Finkel, Krista Vandenborne, Sara Cazzaniga, Silvia Montrasio, Federica Alessi, Paolo Bettica, Eugenio Mercuri, for the Givinostat Study 51 Investigators, the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS) Investigators, the ImagingDMD Investigators, Enrico Bertini, Giacomo Pietro Comi, Eugenio Maria Mercuri, Giuseppe Vita, Sonia Messina, Claudio Bruno, Riccardo Masson, Valeria Sansone, Nathalie Goemans, Liesbeth De Waele, Laurent Servais, Teresa Gidaro, Odile Boespflug‐Tanguy, Yann Péréon, Jessika Johannsen, Astrid Blaschek, Ulrike Schara‐Schmidt, Erik Niks, Imelda de Groot, Saskia Houwen‐van Opstal, Andres Nascimento, Juan Jesus Vilchez, Nuria Muelas, Francina Munell, Marcos Madruga Garrido, Mercedes Lopez Lobato, Michaela Guglieri, Tracey Willis, Stefan Spinty, Daniel Hawcutt, Mariacristina Scoto, Jean K. Mah, Laura McAdam, Kathryn Selby, Katherine Mathews, Craig McDonald, Craig Zaidman, Barry Byrne, John Brandsema, Gyula Acsadi, Chamindra Laverty, Amy Harper, Erika Finanger, Han Phan, Yoram Nevo, Vedrana Milic Rasic, Dragana Vucinic +74 morewiley +1 more sourceExploring Nasal Structural‐Microbial Interactions in Multiple Sclerosis‐Associated Olfactory Impairment
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
Olfactory dysfunction is frequently observed in patients with multiple sclerosis (MS); however, its underlying mechanisms remain poorly understood. To date, no studies have directly examined the nasal mucosal microbiota in MS. This study aimed to explore potential relationships among olfactory function, nasal microbiota composition, Zidan Gao, Zhuoma Danzhen, Yao Li, Junyu Zhu, Lan Chu, Zhang Yang +5 morewiley +1 more sourceThe nephrologist's dilemma: to biopsy or not to biopsy? [PDF]
Nephrology Dialysis Transplantation, 1997 Chew, C., Skuza, G., Clarkson, A., Bannister, K., Faull, R. +4 moreopenaire +4 more sourcesThe Diverse Neuromuscular Spectrum of VPS13A Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts +16 morewiley +1 more sourceMRI-Targeted or Standard Biopsy in Prostate Cancer Screening.
New England Journal of Medicine, 2021 M. Eklund, F. Jäderling, A. Discacciati, M. Bergman, M. Annerstedt, M. Aly, A. Glaessgen, S. Carlsson, H. Grönberg, T. Nordström +9 moresemanticscholar +1 more sourceA Multi‐Center Retrospective Cohort Study of Neurosarcoidosis Myelitis: Current Observations and Future Directions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
The optimal treatment for neurosarcoidosis myelitis is uncertain. We characterize incident neurosarcoidosis myelitis and assess treatment response by MRI and clinical scales. Methods
Incident probable or definite neurosarcoidosis myelitis in adults was retrospectively identified from 13 academic medical centers.Giovanna S. Manzano, Denis Balaban, Yihan Zhang, Brian Healy, Bart K. Chwalisz, Michael Levy, Nagagopal Venna, Barney J. Stern, Carlos A. Pardo, Paula Barreras, Nicole Bou Rjeily, Eoin P. Flanagan, Vyanka Redenbaugh, Allen J. Aksamit Jr., Spencer Hutto, Max Herman, Sally El Sammak, Elsa C. Rodriguez, Laura Snider, Hannah Rains, Mayra Montalvo, Torge Rempe, Sergi Martinez Ramirez, Lucas Horta, Stacey Clardy, Jennifer Lord, Tracey A. Cho, Lama Abdel Wahed, Joseph R. Berger, Rohini D. Samudralwar, Noellie Rivera Torres, David B. Clifford, Steven Richard Dunham, Masoud Majed, Aram Zabeti, Samuel Marcucci, Yang Mao‐Draayer, Jon Doty, Paunel B. Agyei, Shamik Bhattacharyya +39 morewiley +1 more sourceINF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima +27 morewiley +1 more sourceInterleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi +13 morewiley +1 more source
