Results 151 to 160 of about 3,504 (246)

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

An optimized 16S-23S rRNA intergenic spacer region PCR for the detection and identification of <i>Bartonella</i> spp. [PDF]

Microbiol Spectr
Dichter AA, Kaufmann R, Cayo LS, Tsukayama P, Kempf VAJ.   +4 more
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Tropical infectious diseases and skin manifestations: a diagnostic framework. [PDF]

Curr Opin Infect Dis
Cologgi G, Giurco M, Donadoni R, Sepulcri C, Bassetti M.   +4 more
europepmc   +1 more source

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Revolutionizing endocarditis diagnosis: AI meets metagenomics for rare <i>Bartonella</i> detection. [PDF]

Ann Med Surg (Lond)
Muhammad Abdur Rehman A, Rizwan MH, Khalid M, Talha M, Waafira A.   +4 more
europepmc   +1 more source

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

Hunting motivations, behaviour and forest access: Characterising wildlife hunting practices in a multi‐ethnic, forested landscape of Brunei Darussalam, Southeast Asia

People and Nature, EarlyView.
Abstract Unsustainable hunting practices can alter population dynamics, driving biodiversity declines, which leads to ‘empty forests’. Understanding hunting behaviour, including motivations for hunting and relationships with market drivers, and access to hunting grounds are important to develop affirmative policies to stem biodiversity loss.
Natasha L. M. Mannion, Rachel Gaulton, Maria Erica Jamil, Marion Pfeifer, Johan Willem Ferry Slik, Stephen G. Willis, F. Merlin Franco   +6 more
wiley   +1 more source

The role of deer keds (Diptera: Hippoboscidae: Lipoptena and Neolipoptena) in occupational and public health. [PDF]

J Occup Med Toxicol
Braun M, Klingelhöfer D, Brüggmann D, Kramer IM.   +3 more
europepmc   +1 more source

Traditional Chinese Medicine for lung cancer: Mechanisms, clinical evidence, and future perspectives

Precision Medical Sciences, EarlyView.
Graphical abstract represents the risk factors for lung cancer, TCM efficacy and clinical outcomes to future challenges. Abstract Lung cancer remains a leading cause of global cancer mortality. Despite advances in conventional treatments such as surgery, chemotherapy, targeted therapy, and immunotherapy, challenges including drug resistance, toxicity ...
Zhangdeng Chen, Liujun Bao
wiley   +1 more source