Results 101 to 110 of about 5,984 (245)
American Journal of Medical Genetics Part A, Volume 194, Issue 7, July 2024.Abstract The Undiagnosed Disease Network (UDN) is comprised of clinical and research experts collaborating to diagnose rare disease. The UDN is funded by the National Institutes of Health and includes 12 different clinical sites (About Us, 2022).
Kimberly M. Ezell +259 more
wiley +1 more source
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. [PDF]
, 2011 Paroxysmal non-kinesigenic dyskinesia (PNKD) is a rare autosomal dominant movement disorder triggered by stress, fatigue or consumption of either alcohol or caffeine.
Babbitt, Patricia +6 more
core +2 more sources
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant
Movement Disorders Clinical Practice, Volume 11, Issue 6, Page 708-715, June 2024.Abstract Background Genetic syndromes of hyperkinetic movement disorders associated with epileptic encephalopathy and intellectual disability are becoming increasingly recognized. Recently, a de novo heterozygous NACC1 (nucleus accumbens‐associated 1) missense variant was described in a patient cohort including one patient with a combined mitochondrial
Jonna Komulainen‐Ebrahim +11 more
wiley +1 more source
Studies of cerebral palsy in the childhood population of Edinburgh [PDF]
, 1961 This thesis is the result of an investigation of the prevalence, clinical findings and aetiology of cerebral palsy in the childhood population of Edinburgh which was carried out during 1952 and 1953, whilst the author held a George Guthrie Research ...
Ingram, T. T. S.
core
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency
Journal of Inherited Metabolic Disease, Volume 47, Issue 3, Page 447-462, May 2024.Abstract The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long‐term follow‐up. Longitudinal clinical and biochemical data of 22 pediatric and 9 adult individuals with SSADHD from the patient registry of the International Working Group on ...
Natalia Alexandra Julia‐Palacios +21 more
wiley +1 more source
Biomechanical analysis of countermovement jump in people with cerebral palsy
European Journal of Human Movement, 2010 The main purpose of the study was to evaluate the patterns of the developed ground reaction forces in the two – legged countermovement jumping, performed by persons affected by tetraparesis with ataxia, tetraparesis with athetosis, tetraparesis with ...
K. Gianikellis +3 more
doaj
Investigation of Unintentional Movement in People with Cerebral Palsy to Improve Computer Target Aquisition [PDF]
, 2008 People with Cerebral Palsy (CP) have difficulty using computer pointing devices due to unintentional movement in their upper extremities. Fifty percent of people with CP have impaired arm-hand function which limits their ability to interface with ...
Sibenaller, Sara Marie
core
Measured energy expenditure of tube-fed patients with severe neurodevelopment disabilities [PDF]
, 1999 Objective: To determine measured resting energy expenditure (REE) of nonambulatory tube-fed patients with severe neurological neurodevelopmental disabilities. Methods: Twenty patients were prospectively studied.
Brown, Rex O. +5 more
core +2 more sources
Journal of the Allentown Hospital [PDF]
, 1952 https://scholarlyworks.lvhn.org/allentown-hospital-journal/1006/thumbnail ...
Lehigh Valley Health Network
core +2 more sources
The effect of Symmetrel (Amantadine hydrochloride) on a case of Athetosis [PDF]
, 2018 The results of a double-blind cross-over trial comparing Symmetrel against placebo in a child suffering from severe athetosis are presented. No major benefit is claimed as a result of the administration of Symmetrel.
Hatchuel, w. L. F.
core +1 more source