Results 81 to 90 of about 5,984 (245)
Movement Disorders, Volume 40, Issue 4, Page 672-682, April 2025.Abstract Objective Pathogenic variants in B‐cell receptor‐associated protein (BCAP31) are associated with X‐linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non‐progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes
Martin Paucar +10 more
wiley +1 more source
MUTATIONS IN THE ARX GENE: CLINICAL, ELECTROENCEPHALOGRAPHIC AND NEUROIMAGING FEATURES IN 3 PATIENTS
Русский журнал детской неврологии, 2017 The Aristaless-related homeobox (ARX) gene is a member of the paired-type homeodomain transcription factor family with critical roles in embryonic development, particularly in the developing brain.
I. V. Ivanova +5 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 13, Issue 4, April 2025.Mitochondrial short‐chain enoyl‐CoA hydratase 1 deficiency (ECHS1D) is a rare genetic disorder caused by mutations in the ECHS1 gene. Two Chinese families with inborn errors of metabolism were diagnosed using whole‐exome sequencing, revealing one novel variant (c.759_762del, p.Gly255Valfs*21) in the ECHS1 gene.
Jihua Wu +4 more
wiley +1 more source
Clinical and radiological features of fahr’s disease: a mimicker of varied neurological manifestations [PDF]
, 2020 Fahr’s disease is a disorder characterized clinically by a wide spectrum of varied clinical-neurological and psychiatric manifestations occurring secondary to intracranial calcifications with subsequent neuronal cell loss.
Mohapatra, Suvendu Kumar +1 more
core +2 more sources
Electromyographic study of the ragidospasticity of athetosis [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 1973 The static and dynamic components of the tonic stretch reflex and shortening reactions have been studied in 10 patients with athetosis. EMG activity could be recorded only from the biceps muscle when the patient was at rest. The dynamic stretch reflex increased with the velocity of stretching in all muscles examined except the biceps.
Colin J. Andrews +2 more
openaire +2 more sources
Zaporožskij Medicinskij Žurnal, 2019 Diagnostics and differential diagnostics of inherited metabolic diseases in children have still been complicated. The diagnostic difficulties are due to the fact that the diseases are orphan and their recognition is not always timely. Objective.
M. A. Trishchynska, V. O. Svystilnyk
doaj +1 more source
Instrumented assessment of motor function in dyskinetic cerebral palsy: a systematic review
Journal of NeuroEngineering and Rehabilitation, 2020 Background In this systematic review we investigate which instrumented measurements are available to assess motor impairments, related activity limitations and participation restrictions in children and young adults with dyskinetic cerebral palsy. We aim
Helga Haberfehlner +7 more
doaj +1 more source
Fahr’s syndrome with seizure presentation [PDF]
, 2015 Fahr's disease (FD) or Fahr’s syndrome is characterized by basal ganglia calcification with clinical manifestations in the form of neuropsychiatric disorders, neurological symptoms, and cognitive symptoms.
Farshchian, N. +4 more
core
Genetic investigations in cerebral palsy
Developmental Medicine &Child Neurology, Volume 67, Issue 2, Page 177-185, February 2025.Evidence emerging from recent studies indicates an 11% to 40% incidence of monogenic conditions that may have been misdiagnosed as cerebral palsy (CP). Here, we consider the potential impact of genomic diagnosis in patients with a clinical diagnosis of CP.
Anna P. Basu +3 more
wiley +1 more source
Paroxysmal Nonkinesigenic Dyskinesia with Tremor
Case Reports in Neurological Medicine, 2013 Introduction. Paroxysmal nonkinesigenic dyskinesia (PNKD) consists of episodes of chorea, athetosis, or dystonia which are not triggered by movement, with complete remission between episodes.
Robert Fekete
doaj +1 more source