Results 181 to 190 of about 12,062 (300)

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

Discovery of the most compact 3+1-type quadruple star system TIC 120362137. [PDF]

Nat Commun
Borkovits T, Rappaport SA, Chen HL, Torres G, Mitnyan T, Kostov VB, Powell BP, Pribulla T, Zasche P, Bíró IB, Csányi I, Czavalinga DR, Dencs Z, Garai Z, Kolář J, Cagaš P, Henzl Z, Kaye T, Kučáková H, Mašek M, Uhlař R.   +20 more
europepmc   +1 more source

The Stellar Content of the Young Cluster in M 17

, 2003
We present preliminary results of a multicolour BVRI and JHK imaging study of the young cluster in M 17. Colour--colour-diagrams of the form V - λ vs. B - V corroborate previous results about an abnormal extinction law in that region.
Scheyda C M, Chini R, Hoffmeister V H, Manthey E, Schmidthuisen O, Testi L, Brown D, Krügel E, Kürster M   +8 more
core  

Note on the Problem of Great Stellar Distances [PDF]

Proceedings of the National Academy of Sciences, 1922
openaire   +2 more sources

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

Magnetogravitationally regulated streamer accretion onto a class 0 protostellar system. [PDF]

Sci Adv
Huang B, Girart JM, Stephens IW, Megeath T, Le Gouellec VJM, Murillo NM, Cortés P, Fernández-López M, Li ZY, Looney LW, López-Vázquez JA, Pineda JE, Sánchez-Monge Á, Sanhueza P, Sadavoy S, Zhang Q, Hull CLH, Karnath N, Liang E, Myers PC.   +19 more
europepmc   +1 more source

White Matter Hyperintensity Burden and Short‐Interval Change Associated With Sleep Apnoea in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng, Diego Z. Carvalho, Shahid Karim, Anwar Chahal, Virend K. Somers   +4 more
wiley   +1 more source

Precise orbital parameters,masses, and parallax of the subgiant binary system 12 Persei: a combined spectroscopic-interferometric analysis. [PDF]

Sci Rep
Abushattal AA, Widyan H, Dirk M, Al-Wardat MA, Al-Mashaqbeh M, Mendez RA, Dewi DA, Hussein AM, Abu-Alrob EM.   +8 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

A detailed analysis of the Czernik 38 cluster and its associated tidal tail, utilizing Gaia DR3 and 2MASS. [PDF]

Sci Rep
Ahmed NM.
europepmc   +1 more source