Results 131 to 140 of about 30,866 (234)

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, EarlyView.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source

The Importance of Neuropathology in a Complex Movement Disorder with Primary Familial Brain Calcification

Movement Disorders, EarlyView.
Ida Gugler, Per Svenningsson, Inger Nennesmo, Martin Paucar   +3 more
wiley   +1 more source

Eating behaviour profiles across the frontotemporal dementia spectrum

Journal of Neuropsychology, EarlyView.
Abstract Altered eating behaviours are a hallmark of behavioural variant frontotemporal dementia (bvFTD) but are less well characterised in progressive nonfluent aphasia (PNFA) and semantic dementia (SD). We investigated the frequency and onset of eating behaviour changes across the three subtypes.
Yuki Sato, Hitomi Hayashi, Kazuo Kakinuma, Chifumi Iseki, Shoko Ota, Kazuto Katsuse, Shiho Matsubara, Nobuko Kawakami, Shigenori Kanno, Keisuke Morihara, Yoshiyuki Nishio, Kyoko Suzuki   +11 more
wiley   +1 more source

Effects of Meal Consumption on Isotonic Lingual Endurance in Healthy Adults: A Multi‐Institutional Study

Journal of Oral Rehabilitation, EarlyView.
Isotonic tongue endurance was measured pre‐ and post‐meal using the Iowa Oral Performance Instrument (IOPI) in healthy younger (18–35 years) and older (≥ 65 years) adults. Older adults demonstrated greater isotonic endurance and longer mealtimes, with no sex differences in endurance.
Yvette M. McCoy, Kristine E. Galek, Ed M. Bice, Rachel Roberts, Anna Hopkins, Blake Schuck, Claudia Vollman Breen, Devin Wright, Brittany N. Krekeler   +8 more
wiley   +1 more source

Bibliometric analysis of Alzheimer's and dementia research in Latin America

Alzheimer's &Dementia, Volume 22, Issue 5, May 2026.
Abstract INTRODUCTION Dementia is increasing rapidly in Latin America and the Caribbean (LAC), but research output remains limited. Tracking publication trends, themes, and collaborations is key to guiding regional research and policy. METHODS Bibliometric analysis was conducted on dementia‐related publications from 21 LAC countries (1990 to 2024 ...
Mauricio Vazquez‐Guajardo, Alberto J. Mimenza‐Alvarado, Carlos Alejandro Martinez‐Zamora, Angel Lee, Oscar Abraham Jose Padilla Solis, José Francisco Parodi, Nilton Santos Custodio Capuñay, Sara G. Aguilar‐Navarro   +7 more
wiley   +1 more source

Abnormal amyloid PET usually represents intermediate/high Alzheimer's disease neuropathologic change

Alzheimer's &Dementia, Volume 22, Issue 5, May 2026.
Abstract INTRODUCTION Alzheimer's disease neuropathologic change (ADNC) classification identifies not/low and intermediate/high levels of neuropathology. Our goal was to assess how frequently a positive amyloid positron emission tomography (PET) scan indicates not/low ADNC and whether this autopsy finding can occur >10 years after a positive amyloid ...
Brian J. Burkett, Heather J. Wiste, Derek R. Johnson, Bradley F. Boeve, Kejal Kantarci, Ronald C. Petersen, David S. Knopman, Prashanthi Vemuri, Jonathan Graff‐Radford, Val Lowe, Petrice M. Cogswell, Jay Pillai, Christopher G. Schwarz, Aivi T. Nguyen, Melissa E. Murray, Dennis W. Dickson, Clifford R. Jack Jr   +16 more
wiley   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

“Rapidly” Progressive Supranuclear Palsy [PDF]

Movement Disorders Clinical Practice, 2014
Melissa J, Armstrong, Rudy J, Castellani, Stephen G, Reich   +2 more
openaire   +2 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Alzheimer's disease and mixed pathologies as a hidden contributor to fatal hypothermia: A large‐scale forensic autopsy‐based study

Brain Pathology, Volume 36, Issue 3, May 2026.
We investigated neuropathological manifestations of hypothermia in 168 cases. Patients aged 65 years or more constituted 80% of the total cohort. Alzheimer's disease was the most common comorbidity, affecting 40% of all patients. Abstract There is a paucity of autopsy‐based studies providing detailed neuropathological characteristics of fatal ...
Shojiro Ichimata, Koji Yoshida, Ryo Tanaka   +2 more
wiley   +1 more source