Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients [PDF]
, 2005 In view of the paucity of deletion studies of survival of motor neuron (SMN) and neuronal apoptosis inhibitor protein (NAIP) genes in Indian SMA patients, this study has been undertaken to determine the status of SMN1, SMN2 and NAIP gene deletions in ...
Kalita, J. +7 more
core +1 more source
Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology
Movement Disorders, EarlyView.Abstract Background Therapeutic interventions in Friedreich's ataxia (FRDA) are progressing into clinical trials, and the need for robust and easily accessible biomarkers has arisen. Objective This study aimed to consolidate preliminary findings of changes in the levels of neurofilament light (NfL), glial fibrillary acidic protein (GFAP), Tau, and ...
Christian Rummey +9 more
wiley +1 more source
Late-onset spinal motor neuronopathy- a new neuromuscular disease [PDF]
, 2015 The aim of this study was to clarify the clinical phenotype of late-onset spinal motor neuronopathy (LOSMoN), an adult-onset autosomal dominant lower motor neuron disorder identified first in two families in Eastern Finland, in order to clarify ...
Jokela, Manu
core
The Relationship between Osteogenesis Imperfecta and Spinal Muscular Atrophy [PDF]
, 2011 ObjectiveA 4-month-old female with osteogenesis imperfecta (OI) type II was admitted in PICU of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated.
Fahimzad, Alireza +3 more
core +2 more sources
Central Pathophysiology and Brain Network Changes Related to Camptocormia in Parkinson's Disease
Movement Disorders, EarlyView.ABSTRACT Background Studies on brain connectivity offer important insights into the changes that occur in central network diseases such as Parkinson's disease (PD). Camptocormia, a condition characterized by abnormal flexion of the trunk, often occurs in advanced PD, but its underlying mechanisms are not yet clear.
Tauqeer Anjum +10 more
wiley +1 more source
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P [PDF]
, 2017 In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named ‘scapuloperoneal syndrome type Kaeser' (OMIM #181400).
Born, C. +13 more
core
Motor Unit Number Index (MUNIX) in Control Children: Reference Values and Reliability
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims The motor unit number index (MUNIX) is recognized as a reliable electrophysiological biomarker, and reference values are available for healthy adults but not for children. The aim of this study was to determine reference MUNIX values in healthy children.
Christophe Boulay +7 more
wiley +1 more source
Spinal muscular atrophy:clinical spectrum and genetic mutations in Pakistani children [PDF]
, 2012 Background: In Pakistan the rate of consanguineous marriages is high, thus, the chance of incidence of autosomal recessive disorders is likely to be high.
Ibrahim, S. H. +2 more
core +2 more sources
Clinical Utility of Far‐Field Potentials in Amyotrophic Lateral Sclerosis
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Far field potentials (FFP) have been proposed as a reliable neurophysiological prognostic biomarker in amyotrophic lateral sclerosis (ALS). This study evaluates the diagnostic utility of ulnar nerve FFP in ALS. Methods Comprehensive peripheral neurophysiological assessments were conducted in 62 ALS and 43 ALS‐mimicking ...
Aicee Dawn Calma +7 more
wiley +1 more source
Chronic generalized spinal muscular atrophy of infancy and childhood: Arrested Werdnig-Hoffmann disease [PDF]
, 1973 John Pearn, John Wilson
openalex +1 more source