Results 81 to 90 of about 2,088,465 (256)

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

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

PREVENTION MEASURES IN THE SYSTEM OF PROCEDURE FORCED MEASURES

Хабаршы. Заң сериясы, 2019
The article considers the preventive measures in the system of measures of procedural coercion. The implementation of criminal procedure is often associated with the use of coercion by citizens of the state involved in criminal proceedings to engage in ...
Sharipova A.B., Aidarov R.A.
doaj  

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Global Rather Than Vertical‐Selective Saccadic Abnormalities in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To test whether vertical saccades are preferentially affected in Progressive Supranuclear Palsy (PSP). Methods PSP patients (n = 24) were compared to age‐matched controls (n = 94) and two degenerative groups (Alzheimer's disease, n = 20; Lewy body disease, n = 50).
Duy Duan Nguyen, Mark Paine, Soohyun Lee, Amir Fazlollahi, Baibin (Ben) Wang, John D. O'Sullivan, Peter J. Nestor   +6 more
wiley   +1 more source

When home becomes a prison: House arrest as a form of psychological torture

Torture
This editorial critically examines the use of administrative movement restrictions—particularly house arrest—as extrajudicial counter-terrorism measures, highlighting their widespread application in both democratic and authoritarian regimes.
Pau Perez-Sales, Sara Lopez-Martin
doaj   +1 more source

A BOOK OF TRANSFIGURATION - CARDINAL IULIU HOSSU’S MEMOIR REVISITED IN 2018 -

Studia Universitatis Babeş-Bolyai. Philologia, 2018
A Book of Transfiguration - Cardinal Iuliu Hossu’s Memoir Revisited in 2018. - The present study focuses on analysing the memoir written by Cardinal Iuliu Hossu in 1961, during his house arrest at the Căldărușani Monastery, and published in 2003, after ...
Ruxandra CESEREANU
doaj   +1 more source

An act relating to making arrest warrants and certain affidavits made in support of the issuance of arrest warrants available for public inspection

, 2003
Bill introduced by the Texas House of Representatives relating to making arrest warrants and certain affidavits made in support of the issuance of arrest warrants available for public ...
Texas. Legislature. House of Representatives.
core  

Disease Course After Anti‐CD20 Discontinuation in Secondary Progressive Multiple Sclerosis—A Multicenter Long‐Term Longitudinal Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To describe long‐term outcomes after anti‐CD20 discontinuation in selected patients with secondary progressive multiple sclerosis (SPMS) who remained without subsequent disease‐modifying therapy (DMT). Methods We retrospectively analyzed data from four centers in Austria and Switzerland.
Ferdinand Otto, Dariia Kliushnikova, Richard Friedrich Radlberger, Sinan Yasaroglu, Tobias Moser, Andrea Harrer, Kitty Kratzer, Wolfgang Hitzl, Christiane Gradl, Martin Schmidauer, Patrick Roth, Harald Hegen, Peter Wipfler   +12 more
wiley   +1 more source

House arrest: competition with preventive measures applied by court decision

Известия высших учебных заведений. Поволжский регион: Общественные науки
Background. Improving legislation sometimes leads to results that were not orig-inally envisaged by the legislator. The addition of Article 108 of the Code of Criminal Pro-cedure to Part 1.1.
V.V. Geranin, S.N. Mal'tseva
doaj   +1 more source