Results 161 to 170 of about 262,804 (235)

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

The Advanced Therapies model of Lund an integrated approach to accelerate access for many patients. [PDF]

Mol Ther Methods Clin Dev
Helenius G, Jovinge S, Falk A.
europepmc   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
wiley   +1 more source

Exploring glycoform-dependent dynamic modulations in human immunoglobulin G via computational and experimental approaches. [PDF]

Proc Natl Acad Sci U S A
Yanaka S, Sakae Y, Miyanoiri Y, Yamaguchi T, Isono Y, Kondo S, Iwasaki M, Onitsuka M, Yagi H, Kato K.   +9 more
europepmc   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Airborne PCB Concentrations in Portland, Oregon: Emissions and Contributions from the Portland Harbor Superfund Site. [PDF]

ACS EST Air
Slade AR, Martinez A, Mathieu-Campbell ME, Cohen C, Watkins SL, Hornbuckle KC.   +5 more
europepmc   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Normalization of the percentage of signal recovery derived from dynamic susceptibility contrast perfusion MRI in brain tumors. [PDF]

Neuroradiology
Sanvito F, Yao J, Cho NS, Telesca D, Salamon N, Cloughesy TF, Ellingson BM.   +6 more
europepmc   +1 more source

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Adenovirus Genotypes Associated With Severe Acute Respiratory Infections Outbreak in Children, in Antioquia, Colombia, 2022-2023. [PDF]

Pediatr Infect Dis J
Angélica Maya M, Ortiz C, Averhoff F, Isabel Davila A, Bastidas D, Berg MG, Cloherty GA, Perez-Restrepo LS, Ciuoderis-Aponte K, Usuga J, Moreno I, Hernandez-Ortiz JP, Rebolledo PA, Osorio JE.   +13 more
europepmc   +1 more source