Results 121 to 130 of about 71,528 (269)

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

Annals of Neurology, Volume 99, Issue 5, Page 1287-1302, May 2026.
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

A Core Head, Neck, and Neuroanatomy Syllabus for Physical Therapy Student Education

Clinical Anatomy, Volume 39, Issue 4, Page 436-460, May 2026.
ABSTRACT Head, neck, and neuroanatomy are essential components of physical therapy education due to their broad clinical applications. Detailed syllabi exist for medical students, yet none have been developed for physical therapy. This study aimed to produce an International Federation of Associations of Anatomists core head, neck, and neuroanatomy ...
Stephanie J. Woodley, Brooke Willoughby, Alexandra L. Webb, Natasha A. M. S. Flack, Laura Y. Whitburn   +4 more
wiley   +1 more source

Wernicke Encephalopathy After Sleeve Gastrectomy

Annals of Internal Medicine: Clinical Cases
We present a case of Wernicke encephalopathy after sleeve gastrectomy. The patient exhibited spontaneous upbeat nystagmus and gaze-evoked nystagmus during an ophthalmologic examination, as shown in the accompanying video.
Lu Li, Jeong-Hun Shin, Kavita Sharma, Dong Wook Kim   +3 more
doaj   +1 more source

Treatment of anterior canal benign paroxysmal positional vertigo by a prolonged forced position procedure [PDF]

, 2004
Crevits, Luc
core   +2 more sources

A Chinese X‐Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined ABCD1 Mutation—A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT X‐linked adrenoleukodystrophy (X‐ALD) is a genetic peroxisome disorder linked to ABCD1 mutation, characterized by rapid and complex clinical symptoms. We here report a case of X‐ALD manifesting solely as dysarthria, associated with an undefined mutation in the ABCD1 gene, underscoring the necessity of atypical clinical symptoms in X‐ALD ...
Fu‐Qing Zhang, Zhuoran Zhang, Dongliang Wang, Ying Yang, Xin Li   +4 more
wiley   +1 more source

Bidirectional modulation of numerical magnitude [PDF]

, 2015
Arshad, Q, Bronstein, A
core   +1 more source

The effects of deuterium on static posture control [PDF]

A significant operational problem impacting upon the Space Shuttle program involves the astronaut's ability to safely egress from the Orbiter during an emergency situation. Following space flight, astronauts display significant movement problems.
Layne, Charles S.
core   +1 more source

Mutation in RNF170 Causes Unsteady Gait with Hypertrophic Olivary Degeneration

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Hypertrophic olivary degeneration (HOD) is a rare form of transsynaptic degeneration resulting from disruption of the Guillain–Mollaret triangle, typically presenting with palatal tremor, ataxia, and nystagmus. Mutations in the Ring Finger Protein 170 (RNF170) gene have been associated with autosomal dominant sensory ataxia.
Change Wang
wiley   +1 more source

Miners' Nystagmus [PDF]

BMJ, 1923
openaire   +8 more sources

Kinematics nomenclature for physiological accelerations with special reference to vestibular applications [PDF]

Kinematics nomenclature for physiological accelerations and special reference to vestibular ...
Correia, M. J., Hixson, W. C., Niven, J. I.   +2 more
core   +2 more sources