Results 221 to 230 of about 5,668,523 (337)

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

Presence of smooth muscle continuous with the rectal and vaginal walls in the deep perineal space prompts reconsideration of the deep transverse perineal muscle. [PDF]

Sci Rep
Muro S, Chang L, Tharnmanularp S, Nimura A, Churei H, Akita K.   +5 more
europepmc   +1 more source

Thinking of Space through Life Sciences

, 1991
Sakyo Komatsu
openalex   +2 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

Nonlinear Chiral-like State Transfer realized with a minimal set of parameters. [PDF]

Nat Commun
Bai K, Lin C, Liu T, Li JZ, Lyu X, Xiao M.   +5 more
europepmc   +1 more source

Lessons from Sl-j/fmpt life science experiment. Freeflow Electrophoresis Experiment in Space.

, 1993
Hiroyuki Matsumiya
openalex   +2 more sources

ICU‐EEG Pattern Detection by a Convolutional Neural Network

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Patients in the intensive care unit (ICU) often require continuous EEG (cEEG) monitoring due to the high risk of seizures and rhythmic and periodic patterns (RPPs). However, interpreting cEEG in real time is resource‐intensive and heavily relies on specialized expertise, which is not always available.
Giulio Degano, Hervé Quintard, Andreas Kleinschmidt, Nikita Francini, Oana E. Sarbu, Pia De Stefano   +5 more
wiley   +1 more source

Endoscopic intraperitoneal subserosal dissection for tumor in the spleen-stomach space. [PDF]

Endoscopy
Luo SB, Liu ZQ, Wang L, Li QL, Zhou PH.
europepmc   +1 more source

Secret Medicine for Longevity of Human Life in Space : Research of New Medicine and Space Life Science with Protein Synthesizing Functional Improvement

, 1991
S. Takahashi
openalex   +2 more sources

Understanding Contributors of Resilience in Youth With Childhood‐Onset Systemic Lupus Erythematosus Through a Socioecological Lens: A Mixed‐Methods Study

Arthritis Care &Research, EarlyView.
Objective This study aimed to identify themes contributing to resilience in childhood‐onset systemic lupus erythematosus (cSLE), distinguish between profiles of resilience, and examine how they relate to underlying themes and patient characteristics. Methods We conducted a mixed‐methods study of 21 patients with cSLE aged 11 to 19 years at a Canadian ...
Isabella Zaffino, Louise Boulard, Joanna Law, Asha Jeyanathan, Lawrence Ng, Sandra Williams‐Reid, Kiah Reid, Angela Cortes, Eugene Cortes, Ashley Danguecan, Deborah M. Levy, Linda T. Hiraki, Andrea M. Knight   +12 more
wiley   +1 more source