Results 111 to 120 of about 9,662,184 (369)

Whole‐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 more
wiley   +1 more source

Response: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70) [PDF]

Annals of Rehabilitation Medicine, 2020
Jihyun Park, Seong-Woong Kang, Won Ah Choi, Yewon Lee, Han Eol Cho   +4 more
doaj   +1 more source

Downregulation of genes with a function in axon outgrowth and synapse formation in motor neurones of the VEGF(delta/delta) mouse model of amyotrophic lateral sclerosis [PDF]

, 2010
Background: Vascular endothelial growth factor (VEGF) is an endothelial cell mitogen that stimulates vasculogenesis. It has also been shown to act as a neurotrophic factor in vitro and in vivo.
Bender, F.L.P., Brockington, A., Carmeliet, P., Claes, F., Heath, P.R., Holden, H., Kasher, P., Lambrechts, D., Sendtner, M., Shaw, P.J.   +9 more
core   +4 more sources

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

Annals of Clinical and Translational Neurology, 2016
Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian
M. Kambouris, J. Thevenon, A. Soldatos, Allison J Cox, J. Stephen, T. Ben-Omran, Y. Al-Sarraj, Hala Boulos, W. Bone, J. Mullikin, A. Masurel‐Paulet, J. St‐Onge, Yannis Dufford, C. Chantegret, C. Thauvin-Robinet, Jamil R Al-Alami, L. Faivre, J. Rivière, W. Gahl, A. Bassuk, M. Malicdan, H. El-Shanti   +21 more
semanticscholar   +1 more source

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye, Zu‐Ying Kuang, Bo Li, Meng‐Qiu Pan, Li‐Hua Zhou, Yang‐Yang Dai, Si‐Fen Xie, Xian‐Guang Lin, Ye‐Peng Hu, Li‐Hong Jiang, Zhan‐Hang Wang, Wei‐Jing Zhang   +11 more
wiley   +1 more source

In Vivo Reprogramming Using Yamanaka Factors in the CNS: A Scoping Review

Cells
Central nervous system diseases, particularly neurodegenerative disorders, pose significant challenges in medicine. These conditions, characterized by progressive neuronal loss, have remained largely incurable, exacting a heavy toll on individuals and ...
Han Eol Cho, Siwoo Lee, Jung Hwa Seo, Seong-Woong Kang, Won Ah Choi, Sung-Rae Cho   +5 more
doaj   +1 more source

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Safety and feasibility of Lin- cells administration to ALS patients : a novel view on humoral factors and miRNA profiles [PDF]

, 2018
Therapeutic options for amyotrophic lateral sclerosis (ALS) are still limited. Great hopes, however, are placed in growth factors that show neuroprotective abilities (e.g., nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), and vascular
Baumert, Bartłomiej, Dulak, Józef, Gołąb-Janowska, Monika, Gródecka-Szwajkiewicz, Dorota, Kawa, Miłosz P., Kotowski, Maciej, Litwińska, Zofia, Machaliński, Bogusław, Nowacki, Przemysław, Peregud-Pogorzelski, Jarosław, Pius-Sadowska, Ewa, Sobuś, Anna, Stępniewski, Jacek   +12 more
core   +2 more sources

Trends in Dermatopolymyositis Mortality, 1999–2022: A Nationwide Population‐Based Study, United States

Arthritis Care &Research, EarlyView.
We report the national burden of dermatopolymyositis mortality over the past quarter century using the US national vital statistics data. Age‐standardized mortality rates for dermatopolymyositis decreased at an annual rate of 3.8% each year, which was higher than the annual percent decrease for deaths from all other causes.
Elizabeth Matz, Ram R. Singh
wiley   +1 more source

Neuromuscular Diseases

, 2019
A wide range of neuromuscular diseases (NMDs) may result in dysfunction of the ventilatory pump and consequently lead to complications such as respiratory failure, sleep disorder, aspiration pneumonia and death. Respiratory disorders are the primary cause of mortality in NMDs, and appropriate management of patients can prevent complications and prolong
Fabrizio Racca, Brunella Gily
openaire   +3 more sources