Results 101 to 110 of about 242,216 (256)

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Prevalence of Tongue Anomalies in Hamadan, Iran [PDF]

Iranian Journal of Public Health, 2008
Background: Since the earliest days of medicine, the tongue has been considered a good reflection of systemic disease. Hip­pocrates, Galen and others considered the tongue to be barometer of health. In addition, the early diagnose of tongue le­sions help
F Mojarrad, P Bakianian Vaziri   +1 more
doaj   +1 more source

Distribution of Helicobacter pylori in the oral cavity according to the condition of the tongue

Heliyon
Helicobacter pylori is a risk factor for gastric diseases, such as peptic ulcers and cancer, and the condition of the tongue is considered to reflect both the general health and that of the digestive system.
Yuriko Matsuoka, Masakazu Hamada, Ryota Nomura, Yuko Ogaya, Tamami Kadota, Kazuhiko Nakano   +5 more
doaj   +1 more source

Tau Pathology in Alzheimer's Disease Uniquely Affects Sulcal Depths

Annals of Neurology, EarlyView.
Objective Though it is widely known that tau deposition affects brain structure, the precise localization of these effects is poorly understood, especially in relation to gyral and sulcal anatomy. We investigated whether tau pathology in Alzheimer's disease (AD) preferentially affects sulci, and particularly sulcal depths.
Samira A. Maboudian, Corrina S. Fonseca, Adam C. Martersteck, Yishu Chao, Yuheng Chen, Daniela Ushizima, Duygu Tosun, Lea T. Grinberg, Kevin S. Weiner, William J. Jagust, for the Alzheimer's Disease Neuroimaging Initiative   +10 more
wiley   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source

Ultrasonography of the tongue in macroglossia – a case report

Journal of Ultrasonography, 2013
This paper is an attempt to assess the usefulness of ultrasonography in the diagnosis of the enlargement of the tongue (macroglossia). The role of sonography in diagnosing local pathologies of the tongue, such as neoplasms, abscesses or granulomas, has
Joanna Ścieszka, Sławomira Kyrcz-Krzemień, Paweł Cieślik, Dagmara Urbańska-Krawiec   +3 more
doaj  

Dr. Hans Kohn and the political takeover of the Berlin Medical Society by the National Socialist regime in 1933

The Anatomical Record, EarlyView.
Abstract To solidify their power over society, totalitarian regimes will usually eliminate any dissent, any perceived threats early on. These threats include not only political enemies but also educated and independent segments of society, such as professional associations.
Michael Hortsch
wiley   +1 more source

Tooth row allometry in domestic rabbits and nondomestic lagomorphs: Evidence for a decoupling of body and tooth row size changes in evolutionary time

The Anatomical Record, EarlyView.
Domestic rabbits of different body sizes differ disproportionately in the length of their tooth row or the length of their diastema. Abstract In various domestic mammals, smaller breeds tend to have proportionally larger teeth, whereas this is not a universal trend across mammals.
Ursina L. Fasciati, Christine Böhmer, Stefanie Ohlerth, Marcus Clauss   +3 more
wiley   +1 more source

A contribution to the anatomy of two rare cetacean species: The hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica)

The Anatomical Record, EarlyView.
Abstract The anatomical description of the hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica) remains largely unexplored, due to limited specimen availability and preservation challenges. This study employed digital imaging techniques, conventional histology, and computed tomography to provide visualization of
Jean‐Marie Graïc, Tommaso Gerussi, Bruno Cozzi, Rebecca M. Boys, Brian Chin Wing Kot, Matthew R. Perrott, Kane Fleury, Tabris Yik To Chung, Henry Chun Lok Tsui, Emma Burns, Trudi Webster, Stuart Hunter, Emma L. Betty, Odette Howarth, Carolina Loch, Sophie White, Steve Dawson, William Rayment, Ros Cole, Derek Cox, Tom Waterhouse, Hannah Hendriks, Anton van Helden, Muriel Johnstone, Ramari Oliphant Stewart, R. Ewan Fordyce, Karen A. Stockin   +26 more
wiley   +1 more source

Tongue lesions and anomalies among patients attending outpatient clinic in Sulaymaniyah city

Advanced Medical Journal
Background and objectives: The tongue is an essential muscular organ used for speech, mastication, deglutition and sucking, it had an influence on face development, and dental occlusion.
Kanyaw Abubakr Omar, Shanaz Mohammed Gaphor   +1 more
doaj   +1 more source