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 +26 more
wiley +1 more source
Certain features of the cochleovestibular syndrome in the residual stage of traumatic brain disease [PDF]
Caloric and rotation tests were applied to the study of the vestibular analyser in 84 patients in the residual state of traumatic disease of the brain.
Garshin, M. I., Volyanskiy, V. Y.
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Nerve Ultrasound in Patients With Friedreich Ataxia
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Katharina Kneer +9 more
wiley +1 more source
Uner Tan Syndrome: History, Clinical Evaluations, Genetics, and the\ud Dynamics of Human Quadrupedalism [PDF]
, 2010 : This review includes for the first time a dynamical systems analysis of human quadrupedalism in Uner Tan syndrome, which is characterized by habitual quadrupedalism, impaired intelligence, and rudimentary speech.
Tan, Prof. Dr. Uner
core
Physiological barriers to oral intake in survivors of critical illness: A scoping review
Nutrition in Clinical Practice, EarlyView.Abstract Oral nutrition is the predominant mode of nutrition delivery on the post–Intensive Care Unit (ICU) ward; yet, it is associated with lower intake than via enteral or parenteral nutrition. There are limited data on barriers that influence oral intake in ICU survivors.
Breanna J. Teleki +4 more
wiley +1 more source
Physiotherapy QuarterlyIntroduction Benign Paroxysmal Positional Vertigo (BPPV) is defined as a disorder of the inner ear characterised by repeated episodes of positional vertigo.
Meenakshi Bagri +4 more
doaj +1 more source
Space flight research relevant to health, physical education, and recreation: With particular reference to Skylab's life science experiments [PDF]
, 1979 Data collected in the Skylab program relating to physiological stresses is presented. Included are routine blood measures used in clinical medicine as research type endocrine analyses to investigate the metabolic/endocrine responses to weightlessness ...
Heusner, W. W., Vanhuss, W. D.
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The Global Burden of Cholesteatoma: A Systematic Review and Meta‐analysis
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective This systematic review and meta‐analysis sought to estimate the global and World Health Organization (WHO) regional prevalence and burden of cholesteatoma. Data Sources PubMed, APA PsycINFO, the Cochrane Library, Embase, and WHO International Clinical Trials Registry Platform (ICTRP) from 2010 to 2025.
Herbert Melariri +21 more
wiley +1 more source
Occupational changes in the organ of hearing and equilibrium in sailors and fisherman [PDF]
Prophylactic examination in persons engaged in fishing industry and in sailors of ocean-going ships demonstrated occupational cochlear neuritis, resulting from the action of noise and vibration.
Menyakin, R. P., Poperetskaya, V. I.
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