Results 41 to 50 of about 1,085 (157)

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch   +8 more
wiley   +1 more source

Protective Potentials of Natural Products Against Vascular Dementia: A Comprehensive Review of Experimental Studies

Phytotherapy Research, EarlyView.
ABSTRACT Vascular dementia (VaD), accounting for up to 20% of dementia cases globally, is primarily driven by chronic cerebral hypoperfusion (CCH), which leads to progressive cognitive impairment. Despite the increasing prevalence of VaD, effective treatments remain limited.
Jung‐Hoon Kim, Yongtaek Oh, Suin Cho
wiley   +1 more source

Input of exome sequencing in early‐onset cerebral amyloid angiopathy

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring
INTRODUCTION Genetics of cerebral amyloid angiopathy (CAA) remains understudied. METHODS We assessed variants in Alzheimer's disease (AD) risk factor genes and differential diagnosis genes by performing exome sequencing among 78 patients with early‐onset
Lou Grangeon, Camille Charbonnier, Stéphane Rousseau, Anne Claire Richard, Olivier Quenez, Aline Zarea, Anne Boland, Robert Olaso, Jean‐François Deleuze, CAA study group, Elisabeth Tournier‐Lasserve, Gael Nicolas, David Wallon   +12 more
doaj   +1 more source

Minimal residual disease–guided ibrutinib and venetoclax in patients with chronic lymphocytic leukaemia and complex karyotype

British Journal of Haematology, EarlyView.
Minimal residual disease (MRD)–guided ibrutinib and venetoclax (IVen) achieved durable remissions and high undetectable MRD (uMRD) rates in patients with high‐risk chronic lymphocytic leukaemia (CLL). Compared with historical ibrutinib monotherapy, IVen was associated with improved progression‐free and overall survival despite presence of complex ...
Maria Kislova, Elena Dmitrieva, Elena Naumova, Margarita Pochtar, Svetlana Lugovskaya, Yury Kobzev, Alla Loban, Maria Gladysheva, Tatiana Obukhova, Bella Biderman, Andrey Sudarikov, Egor Volchkov, Maria Ivanova, Vadim Ptushkin, Andrea Visentin, Eugene Nikitin   +15 more
wiley   +1 more source

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

Clinical Genetics, EarlyView.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler, Neven Maksemous, Rodney A. Lea, Robert A. Smith, Heidi G. Sutherland, Lyn R. Griffiths   +5 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Unmasking the Influence of Viral Micro‐RNAs on Host Immunity

Immunology &Cell Biology, EarlyView.
Viral micro‐RNAs are increasingly recognized as key modulators of host–virus interactions. They influence multiple immune functions, including antigen presentation, T‐cell activation, and cytokine signaling, while also tuning viral gene expression to promote persistence.
Riley J. K. Easton, Bernadette M. Saunders   +1 more
wiley   +1 more source

Preventing infections after CD19‐directed chimeric antigen receptor T‐cell therapies for lymphoma: a consensus practice statement

Internal Medicine Journal, EarlyView.
Abstract Chimeric antigen receptor (CAR) T‐cell therapies directed against cluster of differentiation 19 (CD19) are a standard of care for relapsed or refractory B‐cell lymphomas. Infection is the leading cause of non‐relapse mortality, and this risk may persist for years after CAR T‐cell receipt.
Aine Hurley, Philip George, Gemma Reynolds, Adam Stewart, Hang Quach, Nicole O'Leary, Zoe McQuilten, Andrea S. Henden, Lynette Chee, Chan Y. Cheah, Olivia Bupha‐Intr, Emily Blyth, Ben Teh, Monica Slavin, Michael Dickinson, Robert Weinkove   +15 more
wiley   +1 more source

Levodopa‐Responsive Parkinsonism Preceded by Isolated Upper Limb Tremor Associated with PTEN Variant

Movement Disorders Clinical Practice, EarlyView.
Sacha E. Gandhi, Rekha Siripurapu, Audrey Smith, Christopher Kobylecki   +3 more
wiley   +1 more source

Energetic microdomains and the vascular control of neuronal and muscle excitability: Toward a unified model

The Journal of Physiology, EarlyView.
Abstract figure legend The capillary–mitochondria–ion channel (CMIC) axis scales structural resources to match functional workload. (Left) In settings of restricted energetic capacity (e.g. cortical neurons), sparse capillary networks and modest mitochondrial pools set a lower energetic ceiling, sufficient to support phasic, low‐workload excitability. (
L. Fernando Santana, Scott Earley
wiley   +1 more source