Results 151 to 160 of about 1,670 (170)
Some of the next articles are maybe not open access.
Genetic testing and risk assessment for spinal muscular atrophy (SMA)
Human Genetics, 2002Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately 1 in 10,000 live births, and with a carrier frequency of approximately 1 in 50. Because of gene deletion or conversion, SMN1 exon 7 is homozygously absent in approximately 94% of patients with clinically typical SMA.
Robert B. Wilson, Shuji Ogino
openaire +2 more sources
Spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease)
Archives de Pédiatrie, 2020Spinal muscular atrophy type I, also called Werdnig-Hoffmann disease, is the most serious form. The disease appears before the age of 6 months and is characterized by major global hypotonia and abolition of tendon reflexes, with children never being able to sit unaided. Cognitive development is normal and the expressive gaze of these children contrasts
F. Audic, Christine Barnerias
openaire +3 more sources
Ethical aspects in the care of a child with infantile spinal muscular atrophy (SMA)
Archives de Pédiatrie, 2020The pediatrician has a privileged relationship with a child with infantile spinal muscular atrophy (SMA). At all times, he/she must be the child's mentor, promoting a comprehensive approach and support in order to ensure the best possible solution for the patient's autonomy. In all circumstances, an ethical stance is essential.
Isabelle Desguerre, B. Chabrol
openaire +3 more sources
CT muscle scanning in the evaluation of patients with spinal muscular atrophy (SMA)
Neuroradiology, 1988One hundred patients with spinal muscular atrophy (SMA) were assessed by CT scanning using a standardised technique. The spectrum of CT abnormality occurring in SMA was observed and by overall analysis the patients were divided into 4 groups. While the CT appearances of these groups correlated well with clinical assessment of severity of disease, the ...
P. Sambrook +2 more
openaire +3 more sources
15.33 AVXS-101 in presymptomatic spinal muscular atrophy (SMA) [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 2019 BackgroundOnasemnogene abeparvovec (AVXS-101) is a gene-replacement therapy that treats the genetic root cause of SMA, biallelic survival motor neuron 1 gene (SMN1) deletion/mutation. In a phase 1 study, AVXS-101 improved survival and motor function of symptomatic SMA type 1 patients.
Sarah Kavanagh +22 more
openaire +1 more source
Review of Spinal Muscular Atrophy (SMA) for Prenatal and Pediatric Genetic Counselors
Journal of Genetic Counseling, 2015AbstractSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular condition with degeneration of the anterior horn cells in the spinal column. Five SMA subtypes exist with classification dependent upon the motor milestones achieved. Study of the SMN1 (survival motor neuron) and SMN2 genes as well as the concepts of the “2 + 0” carriers ...
Candice Empey, Amanda Carre
openaire +3 more sources
1985
The spinal muscular atrophies are a group of inherited disorders characterized by degeneration of anterior horn cells (Figure 5.1) and progressive muscle weakness. Pearn1 has defined seven separate SMA syndromes on a clinical and genetic basis, of which acute infantile and chronic childhood SMA form the majority.
openaire +2 more sources
The spinal muscular atrophies are a group of inherited disorders characterized by degeneration of anterior horn cells (Figure 5.1) and progressive muscle weakness. Pearn1 has defined seven separate SMA syndromes on a clinical and genetic basis, of which acute infantile and chronic childhood SMA form the majority.
openaire +2 more sources
Prenatal prediction of childhood‐onset spinal muscular atrophy (SMA) in Turkish families
Prenatal Diagnosis, 2002AbstractChildhood‐onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA‐determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important.
Savas, S +11 more
openaire +4 more sources
4th UK spinal muscular atrophy (SMA) researchers network meeting
Neuromuscular Disorders, 2008The fourth UK Spinal Muscular Atrophy Researchers Network Meeting was held at the Oxford Belfry Hotel on the 21st and 22nd November 2007. The meeting was focused on three main research areas: (1) SMN protein function, (2) Therapeutic strategies in SMA and (3) SMA animal models.
openaire +3 more sources
Infantile spinal muscular atrophy (SMA)
Archives de Pédiatrie, 2020B Chabrol, Isabelle Desguerre
openaire +2 more sources