The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands [PDF]
, 1996 A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD).
Bakker, E. (Egbert) +18 more
core +1 more source
Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data [PDF]
, 2017 Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing.
Brouwer, Oebele F. +11 more
core +2 more sources
Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment [PDF]
, 2016 Acknowledgments This study is supported by the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London (FM and HZ), the Medical Research Council ...
Angkathunkayul, Napat +7 more
core +6 more sources
Motor nerve conduction velocity in spinal muscular atrophy of childhood. [PDF]
Archives of Disease in Childhood, 1976 The ulnar and posterior tibial conduction velocities were measured in 29 children with spinal muscular atrophy, 14 of whom had the servere form of the disease. The ulnar nerve velocity was slow in 12 of the 14 severely affected infants, but normal or fast in 11 of 14 children less severely affected.
A, Moosa, V, Dubowitz
openaire +2 more sources
Population screening for spinal muscular atrophy : a mixed methods study of the views of affected families [PDF]
, 2016 Autosomal recessive conditions are a significant health burden with few treatments. Population carrier screening has been suggested as a means to tackle them.
Boardman, Felicity K. +2 more
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THE PSYCHOMOTOR THEORY OF HUMAN MIND [PDF]
, 2007 This study presents a new theory to explain the neural origins of human mind. This is the psychomotor theory. The author briefly analyzed the historical development of the mind-brain theories.
TAN, Prof. Dr. Uner
core +1 more source
Spontaneous breathing pattern as respiratory functional outcome in children with spinal muscular atrophy (SMA) [PDF]
, 2016 Introduction: SMA is characterised by progressive motor and respiratory muscle weakness. We aimed to verify if in SMA children 1)each form is characterized by specific ventilatory and thoracoabdominal pattern(VTAp) during quiet breathing(QB); 2)VTAp is ...
Aliverti, A. +5 more
core +3 more sources
Segregation analysis of chronic childhood spinal muscular atrophy. [PDF]
Journal of Medical Genetics, 1978 A formal segregation analysis for the disease 'chronic childhood spinal muscular atrophy' is presented. This disease is also known as 'Kugelberg-Welander disease', 'arrested Werdnig-Hoffmann disease', and 'chronic proximal or generalised spinal muscular atrophy'. There were 124 index cases occurring in 115 families.
openaire +2 more sources
Confirmation of Clinical Diagnosis in Requests for Prenatal Prediction of SMA Type I [PDF]
, 1993 The recent discovery of a major SMA-locus in the chromosomal region 5q makes it possible to carry out prenatal DNA studies in families in which a child with SMA type I has been born.
Buys, CHCM +7 more
core +9 more sources
Self-oligomerization regulates stability of survival motor neuron protein isoforms by sequestering an SCFSlmb degron [PDF]
, 2017 Spinal muscular atrophy (SMA) is caused by homozygous mutations in human SMN1. Expression of a duplicate gene (SMN2) primarily results in skipping of exon 7 and production of an unstable protein isoform, SMNΔ7.
A. Gregory Matera +135 more
core +3 more sources