Results 121 to 130 of about 1,244,304 (272)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

The Mascarene Archipelago, a Data-Poor Region for Mobulid Rays: First Records, Seasonal Patterns and Conservation Implications. [PDF]

Ecol Evol
Harris JL, Crochelet E, Mohesh P, Stevens GMW.   +3 more
europepmc   +1 more source

Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani, Emmanuel Barbeau, Béatrice Lemesle, Emilie Milongo‐Rigal, Sophie Fernandez, Sandrine Charpentier, Jean‐François Albucher, Nicolas Raposo, Fabrice Bonneville, Patrice Péran, Jérémie Pariente   +10 more
wiley   +1 more source

Use of nailfold capillaroscopy for evaluation of disease activity in juvenile dermatomyositis: Results of a two-center retrospective study. [PDF]

World J Clin Pediatr
Podzolkova V, Avrusin IS, Nikolaeva M, Afonina E, Davtian S, Nurseitova A, Kravtsova K, Malahova A, Yakovlev AA, Avrusin SL, Kalashnikova OV, Chasnyk VG, Kostik MM.   +12 more
europepmc   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Incidence and type of recurrent ventricular arrhythmia in patients with arrhythmic mitral valve prolapse and implantable cardioverter defibrillator for secondary prevention. [PDF]

Europace
Kneizeh K, Sacher F, Notaristefano F, Vlachos K, Ditac G, Duchateau J, Del-Carpio Munoz F, Jaworski K, Alqarawi W, Vandenberk B, Figliozzi S, Verheul LM, Hassnik RJ, Deville L, Yvorel C, Boukhris M, Pierrard R, Ploux S, Jais P, Hocini M, Frontera A, Witte KK, Pürerfellner H, Haïssaguerre M, Da Costa A, Benali K.   +25 more
europepmc   +2 more sources

Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang, Dongxu Zhang, Dongyuan Liu, Da Lin, Hao Wang   +4 more
wiley   +1 more source

Les corps saints inhumés dans les sanctuaires du diocèse de Langres : conservation, exposition, vénération (VIe-XVIe siècle)

Bulletin du Centre d’Études Médiévales d’Auxerre, 2008
Laurent Durnecker
doaj   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Les reliques de saints dans les pratiques sociales : espace, échanges et représentations (IXe-XIIe siècles)

Bulletin du Centre d’Études Médiévales d’Auxerre, 2004
Edina Bozoky
doaj   +1 more source