Results 251 to 260 of about 5,492,450 (303)

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Drug-resistance profiles, population structure, genomic clustering, and temporal trends in drug resistance among <i>Mycobacterium tuberculosis</i> complex isolates in Ukraine, 2019-2023: a multicentre cohort study. [PDF]

Lancet Reg Health Eur
Butov D, Butova T, Miasoiedov V, Feshchenko Y, Nakonechna O, Kuzhko M, Rosenthal A, Grinev A, Hoppes D, Kilmnick J, Levandovska D, Hryhorieva A, Vekshyn V, Abramova L, Niemann S, Dreyer V, Ukrainian TB Portal Collaborators.   +16 more
europepmc   +1 more source

Ofatumumab Therapy and Long‐Term Seizure Outcomes of Patients With Relapsing Anti‐NMDA Receptor Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There is a lack of studies on seizure outcomes associated with ofatumumab therapy in patients for relapsing anti‐N‐methyl‐D‐aspartate (NMDA) receptor encephalitis. We aimed to evaluate long‐term seizure outcomes of ofatumumab therapy for relapsing anti‐NMDA receptor encephalitis.
Jian Wang, Mengjiao Li, Ping Kong
wiley   +1 more source

Characteristics and Outcomes of Male Participants in a Multicenter Longitudinal Australian Study Cohort

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to determine the differences in demographic, serologic, and clinical characteristics between male and female patients with systemic sclerosis (SSc) in an Australian cohort. Methods This was a retrospective observational study using data from the Australian Scleroderma Cohort Study.
Emily Lin, Dylan Hansen, Laura Ross, Gene‐Siew Ngian, Susanna Proudman, Gabor Major, Maryam Tabesh, Mandana Nikpour, Jennifer Walker, Lauren Host, Nava Ferdowsi, Alannah Quinlivan, Wendy Stevens, Joanne Sahhar, Diane Apostolopoulos   +14 more
wiley   +1 more source

Phenotypic and genotypic analysis of <i>Helicobacter pylori</i> resistance patterns, molecular characteristics, and CYP2C19 polymorphisms in Nanjing: a retrospective cross-sectional study. [PDF]

Front Cell Infect Microbiol
Wang H, Li C, Peng R, Wang X, Gao J, Zhang Z.   +5 more
europepmc   +1 more source

Pharmacological advances in <i>Candida auris</i>: emerging antifungal mechanisms and next-generation therapeutic strategies. [PDF]

J Enzyme Inhib Med Chem
Hudu SA, Saadi N, Morad EA, Tahir A, Jimoh AO.   +4 more
europepmc   +1 more source

Decoding the Complexity of Hepatocellular Carcinoma: Clinical Challenges and Targeting HuR as a Novel Therapeutic Strategy. [PDF]

Livers
Jones E, Eppler N, Ahamed F, Zhang Y.
europepmc   +1 more source

Nanotechnology-Enhanced Delivery and Bioactivity of Dietary Flavonoids: Overcoming Bioavailability Barriers for Targeted Antimicrobial and Antiviral Therapies-A Comprehensive Review. [PDF]

Int J Nanomedicine
Saleh SM, Khan RA, Aroua LM, Mohammed HA.   +3 more
europepmc   +1 more source

Genomic Characterization of Antimicrobial Resistance and Virulence in ST11 Carbapenem-Resistant <i>Klebsiella Pneumoniae</i> Colonizing the Intestinal Tract of Elderly Inpatients. [PDF]

Infect Drug Resist
Chen J, Liu L, Zhang Y, Ling D, Wang F.
europepmc   +1 more source

Low compliance and polypharmacy as key negative predictors in highly effective anti-psoriatic treatments. [PDF]

J Eur Acad Dermatol Venereol
Damiani G.
europepmc   +1 more source