Results 71 to 80 of about 71,039 (272)

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

Movement Disorders, EarlyView.
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije, Maartje Pennings, Roderick P.P.W.M. Maas, Jeroen de Vries, Corien Verschuuren‐Bemelmans, Vincent Odekerken, Sirwan K.L. Darweesh, Mark Huisman, Mayke Oosterloo, Arthur Buijink, Jaron van de Wardt, Els Vanhoutte, Tsz Hang Wong, Lisette Koens, Eva de Boer, Judith van Gaalen, Martijn Beudel, Dareia S. Roos, Jorrit I. Hoff, Thimo Cornelissen, Meyke Schouten, Thatjana Gardeichik, Erica van der Looij, Christine Klein, Joanne Trinh, Erik‐Jan Kamsteeg, Bart van de Warrenburg   +26 more
wiley   +1 more source

Three-dimensional videonystagmography characteristics in patients with benign paroxysmal positional vertigo

Zhongguo Linchuang Yixue
ObjectiveTo analyze the characteristics of nystagmus during the Dix-Hallpike and Roll tests in patients with benign paroxysmal positional vertigo (BPPV) using three-dimensional videonystagmography (3D-VNG), in order to to optimize diagnostic and ...
Yujin ZHENG, Keguang CHEN, Kanglun JIANG, Feng XU, Ying QI, Xinsheng HUANG, Huaili JIANG   +6 more
doaj   +1 more source

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H, Coppieters, Frauke, Cremers, Frans PM, De Baere, Elfride, de Vrieze, Erik, den Hollander, Anneke I, Hetterschijt, Lisette, Hoyng, Carel B, Kremer, Hannie, Lambertus, Stanley, Lamers, Ideke JC, Letteboer, Stef JF, Peters, Theo A, POC1B Study Group, the, Roepman, Ronald, Roosing, Susanne, van den Born, L Ingeborgh, van Wijk, Erwin   +17 more
core   +2 more sources

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Otitis in pet guinea pigs: Causes, clinical signs, treatment and outcomes

Veterinary Record, EarlyView.
Abstract Background Otitis is a major disease impacting both pet guinea pigs and laboratory guinea pigs that are used as models in human otological studies. Methods Medical records from two veterinary clinics were retrospectively reviewed to identify guinea pigs diagnosed with computed tomography (CT)‐confirmed otitis between 2014 and 2023.
Patricia Muffat‐es‐Jacques, Mathilde Charrasse, Paul Raymond, Minh Huynh, Thomas Coutant, Charly Pignon   +5 more
wiley   +1 more source

Three-dimensional characteristics of nystagmus induced by low frequency in semicircular canals of healthy young people

Frontiers in Neuroscience
ObjectiveThe study aimed to analyze the three-dimensional characteristics of nystagmus induced by different semicircular canal combinations in healthy young people, and to determine the reference range of nystagmus slow phase velocity (SPV) and its ...
Xiaobang Huang, Xiaobang Huang, Xiaobang Huang, Xiaobang Huang, Xiaobang Huang, Xueqing Zhang, Xueqing Zhang, Xueqing Zhang, Xueqing Zhang, Xueqing Zhang, Qiaomei Deng, Qiaomei Deng, Qiaomei Deng, Qiaomei Deng, Qiaomei Deng, Shanshan Li, Shanshan Li, Shanshan Li, Shanshan Li, Shanshan Li, Qiang Liu, Qiang Liu, Qiang Liu, Qiang Liu, Qiang Liu, Chao Wen, Chao Wen, Chao Wen, Chao Wen, Chao Wen, Wei Wang, Wei Wang, Wei Wang, Wei Wang, Wei Wang, Taisheng Chen, Taisheng Chen, Taisheng Chen, Taisheng Chen, Taisheng Chen   +39 more
doaj   +1 more source

The effect of visual impairment on quality of life of children aged 3-16 years [PDF]

, 2010
Background: It is well known that visual impairment (VI) has a detrimental effect on Quality of Life (QoL) in adults. Little is known about the effects of VI in childhood. Aims: To evaluate the effects of VI on QoL of children.
Chadha, R. K., Subramanian, A.
core   +3 more sources

Comparing isoflurane and desflurane: A prospective randomised blinded clinical trial in horses undergoing elective surgery

Veterinary Record, EarlyView.
Abstract Background The recovery period is associated with the greatest risk of injury for horses undergoing anaesthesia. Recovery quality and duration can be influenced by the volatile agent. Methods This prospective, randomised blinded clinical investigation recruited 101 healthy client‐owned horses undergoing elective surgery at one UK equine ...
Kate White, John Hird, Polly Taylor
wiley   +1 more source

Spontaneous Nystagmus in the Dark in an Infantile Nystagmus Patient May Represent Negative Optokinetic Afternystagmus

Frontiers in Neurology, 2018
Abnormal projection of the optic nerves to the wrong cerebral hemisphere transforms the optokinetic system from its usual negative feedback loop to a positive feedback loop with characteristic ocular motor instabilities including directional reversal of ...
Ting-Feng Lin, Ting-Feng Lin, Christina Gerth-Kahlert, James V. M. Hanson, James V. M. Hanson, Dominik Straumann, Dominik Straumann, Melody Ying-Yu Huang, Melody Ying-Yu Huang   +8 more
doaj   +1 more source

Sensorimotor processing for balance in spinocerebellar ataxia type 6. [PDF]

, 2015
We investigated whether balance impairments caused by cerebellar disease are associated with specific sensorimotor processing deficits that generalize across all sensory modalities.
Bunn, LM, Day, BL, Giunti, P, Marsden, JF, Voyce, DC   +4 more
core   +1 more source