Results 121 to 130 of about 258,796 (269)

Duplication of the Stomach [PDF]

Archives of Disease in Childhood, 1956
W H, GALLOWAY, A M, SUTHERLAND, A W, WILLIAMS   +2 more
openaire   +2 more sources

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

Impact of Plasma p‐tau181 on Cognition, Motor Phenotypes, and Disease Course in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Phosphorylated tau181 (p‐tau181), an Alzheimer's disease biomarker, was recently evaluated in amyotrophic lateral sclerosis (ALS). We investigated plasma p‐tau181 in 202 ALS/ALS‐FTD patients and 94 healthy controls, assessing cognitive performance, motor function, and longitudinal dynamics.
Elisabeth Kasper, Annaliis Lehto, Nina Nordmann, Oliver Peters, Julian Hellmann, Josef Priller, Eike Jakob Spruth, Gabor C. Petzold, Ina Vogt, Patrick Weydt, Sarah Bernsen, Elisabeth Dinter, Björn Falkenburger, René Günther, Emrah Düzel, Wenzel Glanz, Matthis Synofzik, Lukas Beichert, Annika Spottke, Michael Wagner, Frederic Brosseron, Matthias C. Schmid, Anja Schneider, Stefan Teipel, Johannes Prudlo, Andreas Hermann   +25 more
wiley   +1 more source

Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird, Haley McQuown, Jihyun Park, Samuel J. Teener, Ian F. Webber‐Davis, Andrew D. Carter, Dae‐Gyu Jang, Eva L. Feldman, Stephen A. Goutman, Benjamin J. Murdock   +9 more
wiley   +1 more source

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum of MED13L-Associated Neurodevelopmental Disorder: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Wang Z, Chen X, Cui Z, Qi X, Gu L, Liu Y, Zhao W, Jiang Y.   +7 more
europepmc   +1 more source

Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky, Melissa Lopez, Janet Miller, Millenia Jimenez, Eric M. Liotta, Igor J. Koralnik   +5 more
wiley   +1 more source

Isolated Unilateral Heptadactyly With Combined Preaxial and Postaxial Polydactyly of the Foot in a 9-Month-Old Infant. [PDF]

Case Rep Orthop
Mallilah BP, Marua EP, Kafanabo CB, Mwasulile GL, Moshi PG.   +4 more
europepmc   +1 more source

Integrated PANoptosis Profiling Identifies Immunosuppressive Subtypes and a Prognostic Signature With Functional Validation of MLKL in Glioblastoma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The prognosis of glioblastoma (GBM) remains highly unfavorable, largely due to high tumor heterogeneity and an immunosuppressive microenvironment. However, the functional role of PANoptosis in this context is poorly understood. Methods Patients were stratified via K‐means clustering. A risk score model was constructed using prognosis‐
Langfei Tian, Minghui Zhao, Yuanbo Hu, Kaiyue Wang, Haiguang Liu, Zetong Bai, Kebin Zheng   +6 more
wiley   +1 more source

Quantifying the Influence of Genetic Context on Duplicated Mammalian Genes. [PDF]

Mol Biol Evol
Moffett AS, Falcón-Cortés A, Di Pierro M.   +2 more
europepmc   +1 more source