Results 71 to 80 of about 16,133,838 (218)

Sleep and physical activity in patients with newly diagnosed bipolar disorder in remission, their first-degree unaffected relatives and healthy controls

International Journal of Bipolar Disorders, 2020
Background Sleep disturbances are a central feature in bipolar disorder (BD) that often persist in remission and seem to be present also in unaffected first-degree relatives (UR) of patients with BD, presenting a possible risk factor for later onset of ...
Nikolaj Folke la Cour Karottki, Klara Coello, Sharleny Stanislaus, Sigurd Melbye, Hanne Lie Kjærstad, Kimie Stefanie Ormstrup Sletved, Lars Vedel Kessing, Maj Vinberg   +7 more
doaj   +1 more source

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

Altered Brain Network Connectivity as a Potential Endophenotype of Schizophrenia

Scientific Reports, 2017
Abnormal functional brain connectivity could be considered an endophenotype of psychosis in schizophrenia. Identifying candidate endophenotypes may serve as a tool for elucidating its biological and neural mechanisms.
Peng Li, Teng-Teng Fan, Rong-Jiang Zhao, Ying Han, Le Shi, Hong-Qiang Sun, Si-Jing Chen, Jie Shi, Xiao Lin, Lin Lu   +9 more
doaj   +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

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 comparison of euthymic bipolar patients with unaffected first-degree relatives and healthy controls in terms of neuropsychological functions

, 2014
Objective. Cognitive dysfunction in bipolar disorder (BD) is well established in the literature. The neurocognitive deficits have been considered to be endophenotypic markers of BD, and studies have examined whether neurocognitive deficits exist in first-
CİVİL ARSLAN, FİLİZ, ÖZKORUMAK KARAGÜZEL, EVRİM, Tiryaki, Ahmet   +2 more
core   +1 more source

MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss   +13 more
wiley   +1 more source

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani   +13 more
wiley   +1 more source

Risk of leukemia in first degree relatives of patients with nonsyndromic cleft lip and palate

Brazilian Oral Research, 2014
The aim of this study was to determine the frequency of leukemia in parents of patients with nonsyndromic cleft lip and/or cleft palate (NSCL/P). This case-control study evaluated first-degree family members of 358 patients with NSCL/P and 1,432 subjects
Eduardo GONÇALVES, Daniella Reis Barbosa MARTELLI, Ricardo Della COLETTA, Alexandre Rezende VIEIRA, Antônio Prates CALDEIRA, Hercílio MARTELLI JÚNIOR   +5 more
doaj   +1 more source

Altered cortical plasticity and connectivity in unaffected first-degree relatives of patients with schizophrenia

, 2019
Content: Impaired cortical plasticity and brain dysconnectivity are discussed to be essential pathomechanisms of schizophrenia. NMDA receptors, glutamate and intracellular calcium concentration play a key role in this regard.
Misewitsch, Kristina, Georg-August-Universität Göttingen, Meyer, Thomas, Wobrock, Thomas, Antal, Andrea, null null, Kristina Misewitsch   +6 more
core   +1 more source