Results 101 to 110 of about 982,626 (335)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Quantitative analysis of paraspinal muscle atrophy after oblique lateral interbody fusion alone vs. combined with percutaneous pedicle screw fixation in patients with spondylolisthesis

BMC Musculoskeletal Disorders, 2020
Background There is no available literature for comparison on muscle atrophy between the “stand-alone” oblique lateral interbody fusion (OLIF) and regular OLIF (i.e., combined with percutaneous pedicle screws fixation (PPSF) in patients with ...
Wei He, Da He, Yuqing Sun, Yonggang Xing, Mingming Liu, Jiankun Wen, Weiheng Wang, Yanhai Xi, Wei Tian, Xiaojian Ye   +9 more
doaj   +1 more source

Diseased Spine [PDF]

The Boston Medical and Surgical Journal
n ...
openaire   +3 more sources

Serum Neurofilament Light Chain in Multiple Sclerosis: Superiority of Age‐ and BMI‐Corrected Z Scores/Percentiles Over Absolute Cutoff Values for Prediction of Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Prognostication of disease course and prediction of treatment response in multiple sclerosis is an unmet need. We compared the performance of serum neurofilament light chain Z scores (age‐ and BMI‐adjusted) with absolute concentrations for the prediction of response to disease‐modifying therapy.
Maximilian Einsiedler, Aleksandra Maleska Maceski, Sofia Sandgren, Johanna Oechtering, Sabine Schaedelin, Lisa Hofer, Amar Zadic, Juan Francisco Vilchez Gomez, Lester Melie‐Garcia, Alessandro Cagol, Riccardo Galbusera, Sebastian Finkener, Patrice Lalive, Marjolaine Uginet, Stefanie Müller, Caroline Pot, Amandine Mathias, Renaud Du Pasquier, Robert Hoepner, Andrew Chan, Giulio Disanto, Chiara Zecca, Marcus D’Souza, Lars G. Hemkens, Tobias Derfuss, Özgür Yaldizli, Patrick Roth, Claudio Gobbi, David Brassat, Björn Tackenberg, Henrik Zetterberg, Tjalf Ziemssen, Heinz Wiendl, Klaus Berger, Marco Hermesdorf, Fredrik Piehl, Ludwig Kappos, Cristina Granziera, Ahmed Abdelhak, David Leppert, Eline A. J. Willemse, Pascal Benkert, Jens Kuhle, Swiss Multiple Sclerosis Cohort Study (SMSC)   +43 more
wiley   +1 more source

Senile Ankylosing Hyperostosis of the Spine [PDF]

, 1950
J Forestier, J Rotès-Quérol
openalex   +1 more source

Spine-sheath layer radiative interplay in subparsec-scale jets and the TeV emission from M87

, 2008
Simple one-zone homogeneous synchrotron self-Compton models have severe difficulties in explaining the TeV emission observed in the radiogalaxy M87.
Fabrizio Tavecchio, Gabriele Ghisellini, Harris D. E., Harris D. E., Marconi A., Stawarz L.   +5 more
core   +2 more sources

Translating a Preclinically Tested 15 Hz rTMS Protocol to Humans With Chronic Spinal Cord Injury: A Safety and Feasibility Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Repetitive transcranial magnetic stimulation (rTMS) is a non‐invasive brain stimulation strategy with a demonstrated potential to reinforce the residual pathways after a spinal cord injury (SCI). A preclinically tested high‐frequency (15 Hz) rTMS (15 Hz rTMS) protocol was shown to induce corticospinal tract axon regeneration growth ...
Nabila Brihmat, Mehmed B. Bayram, Morgan Paine, Janelle Carnahan, Jian Zhong, Xiaofei Guan, Guang H. Yue, Soha Saleh, Gail F. Forrest   +8 more
wiley   +1 more source

Efgartigimod Combined With Steroid Treatment for HAM/TSP: A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT HTLV‐1‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive neurological disorder with limited treatment options. We report a 54‐year‐old female with decade‐long, progressive HAM/TSP, previously refractory to rituximab, who experienced worsening spastic paraparesis and neurogenic bladder dysfunction.
Jiahui Zeng, Wotu Tian, Jingran Yang, Yanping Yang, Li Cao, Xinghua Luan   +5 more
wiley   +1 more source

Metabolic Consequences of Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Patients with rheumatoid arthritis (RA) may have metabolic disruption, which can contribute to adverse long‐term outcomes, for multiple reasons. Patients with RA appear to have a higher risk of sarcopenia, type 1 and type 2 diabetes mellitus, metabolic syndrome, and hypertension. Systemic inflammation in RA can cause a “lipid paradox,” with reduced low‐
Stevie Barry, Emily Sheng, Joshua F. Baker   +2 more
wiley   +1 more source