Results 171 to 180 of about 1,219,757 (285)

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Utilisation and Perceived Value of Genetic Counsellors Within US Haemophilia Treatment Centres. [PDF]

Haemophilia
Carls C, Ghate S, Dugan SN, Sawh RN, Tarver DA.   +4 more
europepmc   +1 more source

Region Specific miRNA–mRNA Networks in Gray and White Matter Lesions of Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Multiple sclerosis (MS) is a neurodegenerative demyelinating disease of the central nervous system. This study aimed to identify micro‐RNA (miRNA)–mRNA regulatory networks underlying region‐specific molecular mechanisms in white matter and gray matter lesions in progressive MS.
Adya Sapra, Nagendra K. Rai, Timothy D. Niepokny, Haley Courtney, Ajai Tripathi, Ranjan Dutta   +5 more
wiley   +1 more source

Author Correction: Women engaged in commercial sex living with Human Immunodeficiency Virus and viral non-suppression in Uganda: analysis of multiple respondent-driven sampling surveys, 2021-2023. [PDF]

BMC Glob Public Health
Aluzimbi G, Musinguzi G, Kirungi WL, Ogwal M, Bikokye KW, Kyobutungi S, Wanyenze RK, Nöstlinger C.   +7 more
europepmc   +1 more source

Safety and Efficacy of GLP‐1 Receptor Agonists in Adults With Epilepsy, Obesity, and Type 2 Diabetes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Managing obesity in patients with epilepsy is complicated by the weight‐gaining properties of essential antiseizure medications (ASMs) such as valproate and pregabalin. We evaluated the safety and efficacy of initiating glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) in this population.
Hyoshin Son, Inyoung Hwang, Sang Won Lee, Yun Kim   +3 more
wiley   +1 more source

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato, Alessia Giugno, Miriam Sturniolo, Enrico Fratto, Pio Zoleo, Francesca Felicia Operto, Ilaria Sammarra, Antonio Gambardella   +7 more
wiley   +1 more source

The effects of AI-collaborative translation workshop on translation competence and learner engagement: an empirical study in a Chinese university translation course. [PDF]

Front Psychol
Xue W.
europepmc   +1 more source

Boundary‐Dependent Sleep–Wake Dysregulation in Idiopathic Hypersomnia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Idiopathic hypersomnia (IH) presents with excessive daytime sleepiness (EDS) despite apparently preserved nocturnal sleep, challenging traditional models of hypersomnolence based on sleep loss or fragmentation. We aimed to test the hypothesis that EDS in IH reflects excessive stabilization of the sleep state, consistent with ...
Samantha Mombelli, Karine Lacourse, Hélène Blais, Anne‐Sophie Deshaies‐Rugama, Cynthia Thompson, Alex Desautels, Jacques Montplaisir, Milan Nigam, Christophe Moderie, Boshra Khajehpiri, Catherine Duclos, Jean Marc Lina, Julie Carrier, Nadia Gosselin   +13 more
wiley   +1 more source

Identity profiles and wellbeing of Italian student-athletes. [PDF]

Front Sports Act Living
Santi G, Roklicer R, Wadey R, Carraro A.
europepmc   +1 more source

Structural mechanism of histone H2A.Z exchange by human SRCAP-CFDP1 holoenzyme. [PDF]

Sci Adv
Park G, Wu C, Louder RK.
europepmc   +1 more source