Results 71 to 80 of about 62,561 (290)
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
The Adverse Effect of Spasticity on 3-Month Poststroke Outcome Using a Population-Based Model
Stroke Research and Treatment, 2014 Several devices and medications have been used to address poststroke spasticity. Yet, spasticity’s impact on outcomes remains controversial. Using data from a cohort of 460 ischemic stroke patients, we previously published a validated multivariable ...
S. R. Belagaje +11 more
doaj +1 more source
Frontiers in Neurology, 2019 Objective: This longitudinal observational study investigated how neural stretch-resistance in wrist and finger flexors develops after stroke and relates to motor recovery, secondary complications, and lesion location.Methods: Sixty-one patients were ...
Jeanette Plantin +11 more
doaj +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain +6 more
wiley +1 more source
New insights into the pathophysiology of post-stroke spasticity
Frontiers in Human Neuroscience, 2015 Spasticity is one of many consequences after stroke. It is characterized by a velocity-dependent increase in resistance during passive stretch, resulting from hyperexcitability of the stretch reflex. The underlying mechanism of the hyperexcitable stretch
Sheng eLi, Gerard eFrancisco
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim +12 more
wiley +1 more source
Acta Orthopaedica, 2019 Background and purpose — Spasticity is often regarded as a major cause of functional limitation in children with cerebral palsy (CP). We analyzed the spasticity development with age in the gastrosoleus muscle in children with CP.
Olof Lindén +3 more
doaj +1 more source
Management of spasticity [PDF]
Age and Ageing, 1998 Spasticity is a major challenge to the rehabilitationteam. Spasticity can prevent or hamper function, causepain, disturb sleep, cause unnecessary complicationsand present major difficulties for care workers. Thisarticle reviews the variety of options available for theclinical management of spasticity.
openaire +2 more sources
Spasticity and its related symptoms of spasms, pain, sleep disturbance and bladder dysfunction are common in persons with multiple sclerosis (MS) and may be interconnected through a common pathophysiology and/or may trigger and worsen each other ...
Markus Heibel, Niklas Garde
core +1 more source