Results 61 to 70 of about 103,722 (368)

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Vestibular Perception following Acute Unilateral Vestibular Lesions. [PDF]

, 2013
Little is known about the vestibulo-perceptual (VP) system, particularly after a unilateral vestibular lesion. We investigated vestibulo-ocular (VO) and VP function in 25 patients with vestibular neuritis (VN) acutely (2 days after onset) and after ...
A Palermo, A Schmid-Priscoveanu, A Zwergal, AC Coats, Adolfo M. Bronstein, AG Shaikh, AM Bronstein, Barry Seemungal, BM Seemungal, BM Seemungal, BM Seemungal, BP Graham, C Haburcakova, C Haburcakova, C Helmchen, C Lopez, CM Klingner, D Merfeld, Diego Kaski, DM Merfeld, DM Merfeld, E Miller, EA Grunfeld, F Karmali, FE Guedry, G Bertolini, G Bertolini, G Clement, H Meng, H Shimazu, I Viaud-Delmon, JM Goldberg, John F. Golding, K Brantberg, Krish Sathian, L Grabherr, M Dieterich, M Ernst, M Magnusson, Michael Gresty, N Sinha, Nicholas Cutfield, NJ Cutfield, P Kahane, PF Smith, PR MacNeilage, R Mallery, RW Baloh, Sian Cousins, Stefan Glasauer, T Okada, VE Pettorossi, W Waespe, WO Guldin, Z Zhang   +54 more
core   +4 more sources

Light cupula: the pathophysiological basis of persistent geotropic positional nystagmus

BMJ Open, 2015
Objective To clarify the pathophysiological basis of persistent geotropic positional nystagmus (PGN) in patients with the horizontal canal type of benign paroxysmal positional vertigo (H-BPPV), the time constant (TC) of nystagmus and the relationship ...
T. Imai, Kazunori Matsuda, N. Takeda, A. Uno, T. Kitahara, A. Horii, S. Nishiike, H. Inohara   +7 more
semanticscholar   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Clinical Assessment of the Nystagmus Fixation Suppression Test: An Experimental Study

Journal of International Advanced Otology
BACKGROUND: Assessment of nystagmus fixation suppression can be used as an additional diagnostic tool for patients with an acute vestibular syndrome to distinguish between a central or peripheral cause. We investigated the ability of physicians to detect
Stefanie Siegrist, Thomas Wyss, Athanasia Korda, Georgios Mantokoudis   +3 more
doaj   +1 more source

Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado–Joseph Disease

Annals of Neurology, Volume 98, Issue 1, Page 107-119, July 2025.
Objective An abundance of select transcripts and proteins has been found to be dysregulated in blood samples of Machado–Joseph disease (MJD) carriers. Here, we aimed to: (1) identify blood transcriptional changes as potential biomarkers of MJD; (2) correlate levels of differentially expressed blood transcripts with MJD carriers features; and (3 ...
Ana F. Ferreira, Mafalda Raposo, Emily D. Shaw, Louisa Liu, João Vasconcelos, Teresa Kay, Conceição Bettencourt, Maria Luiza Saraiva‐Pereira, Laura Bannach Jardim, Maria do Carmo Costa, Manuela Lima   +10 more
wiley   +1 more source

VertiGo – a pilot project in nystagmus detection via webcam

Current Directions in Biomedical Engineering, 2020
Dizziness is one of the most common symptoms in medicine. For differentiation of peripheral or central origin of the vertigo, history and clinical examination with detection of a nystagmus is essential.
Reinhardt Sophia, Schmidt Joshua, Leuschel Michael, Schüle Christiane, Schipper Jörg   +4 more
doaj   +1 more source

Follow-up of vestibular function in bilateral vestibulopathy [PDF]

, 2007
Objective: Bilateral vestibulopathy (BV) leads to a bilateral deficit of the vestibulo-ocular reflex and has various aetiologies. The main goal of this study was to determine the frequency and degree of recovery or worsening of vestibular function over ...
Brandt, Thomas, Huppert, Doreen, Jahn, Klaus, Mike, A., Rettinger, Nicole, Strupp, Michael, Weintz, E., Zingler, Vera C.   +7 more
core   +1 more source

Nystagmus in pediatric patients: interventions and patient-focused perspectives

Clinical Ophthalmology, 2015
Nystagmus refers to involuntary, typically conjugate, often rhythmic oscillations of the eyes. The most common cause of nystagmus in children is infantile nystagmus syndrome (INS).
Kimberly Penix, M. Swanson, D. DeCarlo
semanticscholar   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source