Results 171 to 180 of about 25,095 (260)

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Operationalizing diffusion magnetic resonance imaging positivity for detection of vascular contributions to impairment and dementia

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract INTRODUCTION White matter lesions on fluid‐attenuated inversion recovery magnetic resonance imaging (FLAIR‐MRI) reflect small vessel disease (SVD) and aid in identifying vascular contributions to impairment and dementia (VCID). Emerging diffusion MRI (dMRI) biomarkers are sensitive to early SVD but the lack of validated approaches for defining
Mingzhao Hu, Scott A. Przybelski, Terry M. Therneau, Emily S. Lundt, Heather J. Wiste, Carly T. Mester, Michael Kamykowski, Robert I. Reid, Mary M. Machulda, David S. Knopman, Ronald C. Petersen, Clifford R. Jack Jr., Jonathan Graff‐Radford, Prashanthi Vemuri   +13 more
wiley   +1 more source

Sex differences in brain glucose metabolism and Alzheimer's disease risk and progression

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract Sex differences are increasingly recognized as central to the biology of Alzheimer's disease (AD), yet the mechanisms through which they shape brain metabolism and disease vulnerability remain incompletely understood. Brain glucose hypometabolism is a core hallmark of AD and emerges decades before clinical decline, but accumulating evidence ...
Marjan Ramezan, Aphrodite Demetriou, Sara Nicole Burke, Ivan Nalvarte, Andrew C. Shin   +4 more
wiley   +1 more source

Longitudinal retinal microvascular changes and their association with white matter hyperintensities in neuromyelitis optica spectrum disorder. [PDF]

Front Neurol
Liu Y, Xu S, Lin H, Lei X, Li Y, Xu Z, Wei R, Jiang HR, Mei J.   +8 more
europepmc   +1 more source

Differential associations of plasma biomarkers with Alzheimer's disease and small vessel disease: A multimodal imaging study

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract INTRODUCTION We investigated how plasma biomarkers (phosphorylated tau 217 [ptau217], glial fibrillary acidic protein [GFAP], neurofilament light chain [NfL]) relate to imaging markers of small vessel disease (SVD) and Alzheimer's disease (AD), and cognition in memory clinic patients.
Anna Dewenter, Katharina Bürger, Daniel Janowitz, Melina Paulus, Brigitte Nuscher, Fabian Hirsch, Benno Gesierich, Anna Steward, Lukas Frontzkowski, Sebastian N. Roemer‐Cassiano, Zeyu Zhu, Davina Biel, Madleen Klonowski, Gloria Biechele, Sophia Stoecklein, Michael Ewers, Marco Duering, Steffen Tiedt, Matthias Brendel, Nicolai Franzmeier, for the Alzheimer's Disease Neuroimaging Initiative (ADNI)   +20 more
wiley   +1 more source

Association of imaging‐defined brain age with disease severity and adverse outcomes in CADASIL

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract INTRODUCTION Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by cysteine‐altering NOTCH3 variants. We examined whether neuroimaging‐defined brain age is altered in CADASIL and its association with disease severity and outcomes.
Shao‐Lun Hsu, Pei‐Lin Lee, Kun‐Hsien Chou, Chen‐Yuan Kuo, Ching‐Po Lin, Yi‐Chu Liao, Chih‐Ping Chung, Yi‐Chung Lee   +7 more
wiley   +1 more source

Provider and patient perspectives on the diagnosis and treatment of Alzheimer's disease: A global perspective from the Global Alzheimer's Leadership Series (GoALS)

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract Since 2016, the Alzheimer's Association and the Fondation Alzheimer have hosted Global Alzheimer's Leadership Series (GoALS) global think tanks, with world‐leading experts for innovative discussions to advance Alzheimer's disease (AD) research and care.
Philippe Amouyel, Sandrine Andrieu, Angela Bradshaw, Ralph C. Carmona, Magali Dumont, Lea Tenenholz Grinberg, Takeshi Iwatsubo, Oskar Hansson, Clifford R Jack Jr, Gregory A Jicha, Simin Mahinrad, Eric McDade, Catherine J Mummery, Ronald C Petersen, Shelagh Robinson, Julie A. Schneider, Lenny Shellcross, Amanda G Smith, Heather M. Snyder, Beth Tapply, Charlotte Teunissen, Wiesje M. van der Flier, Bruno Vellas, David Wallon, Jeff D Williamson, Donna Wilcock, Maria C. Carrillo   +26 more
wiley   +1 more source