spinal muscular atrophy
Peak cough flow in children and young people with spinal muscular atrophy type II and type III El pico flujo de tos en niños y jóvenes con atrofia muscular espinal tipo II y III
... failure. Our aim is to describe the peak cough flow of children and young people with spinal muscular atrophy types II and III. This is a descriptive, cross-sectional study conducted at a ...
6
Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy.
... Spinal muscular atrophy is a severe motor neuron disease caused by inactivating mutations in the SMN1 gene leading to reduced levels of full-length functional SMN ...mouse spinal cord at 3 ...
14
CLINICAL AND MOLECULAR ANALYSIS OF SPINAL MUSCULAR ATROPHY IN BRAZILIAN PATIENTS
... in spinal muscular atrophy: improved molecular detection and genotype-phenotype ...(1996). Spinal muscular atrophies: recent in- sights and impact on molecular ...
6
Inhibition of apoptosis blocks human motor neuron cell death in a stem cell model of spinal muscular atrophy.
... With a large number of patient lines and subsequent clones being generated by a number of consortia and other groups, the iPSC lines reported here will follow the naming convention recently suggested [32]. In our initial ...
11
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
... Motor neuron diseases (MNDs) are a group of neurodegenerative disorders with involvement of upper and/or lower motor neurons, such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy ...
10
Spinal muscular atrophy 5Q – Treatment with nusinersen
... The spinal muscular atrophy (SMA) is a neurode- generative condition with autosomal recessive genetic inheritance. Nusinersen is an antisense oligonucle- otide drug that modifies the SMN2 pre-mRNA ...
8
Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs.
... Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of motor neurons in the spinal cord and skeletal muscle ...
12
Therapeutic advances in 5q-linked spinal muscular atrophy
... 44. Bertini E, Dessaud E, Mercuri E, Muntoni F, Kirschner J, Reid C et al. Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, ...
8
Spinal muscular atrophy type II (intermediary) and III (Kugelberg-Welander): evolution of 50 patients with physiotherapy and hydrotherapy in a swimming pool
... Table 2 shows that the degrees of scoliosis in our Type II patients was more pronounced than in Type III, and as the disease progressed, in spite of the treatment there was an increase [r] ...
5
Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons.
... P4 spinal cord and ...P4 spinal cord and muscle tissue from their ChAT Cre+ and Myf5 Cre+ conditional SMA D7 mice ...Res/Res spinal cord ...Res/Res spinal cord had approximately 100-fold lower ...
11
Arq. NeuroPsiquiatr. vol.52 número4
... SUMMARY - In a polysomnography study of 32 neuromuscular patients - 22 with a form of muscular dystrophy, 3 with a form of congenital myopathy, 4 with a form of spinal muscular atrophy,[r] ...
8
Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.
... distal spinal muscular atrophy type V (dSMA-V; MIM #600794), which is also known as distal hereditary motor neuropathy type VA (dHMN5A) ...and atrophy of the hand muscles ...
10
J. bras. pneumol. vol.40 número5
... with spinal muscular atrophy (SMA) and in patients with congenital muscular dystrophy (CMD), as well as to identify associations between spinal deformities and the effects of the ...
7
PDF EN Jornal Brasileiro de Pneumologia 5 9 english
... with spinal muscular atrophy (SMA) and in patients with congenital muscular dystrophy (CMD), as well as to identify associations between spinal deformities and the effects of the ...
7
Rev. Bras. Anestesiol. vol.60 número2 en v60n2a09
... between spinal muscular atrophy and the development of hyperthermia has not been ...gressive muscular weakness and unpredictable response to neuromuscular blockers, should be considered, as ...
4
J. Pediatr. (Rio J.) vol.85 número5 en v85n5a03
... The young patients were reviewed on average twice a year by a multidisciplinary team consisting of three to ive doctors (at least one of them senior), one to three specialist physiotherapists, two pediatric nurses, one ...
6
Fernanda Marques de Souza Godinho 1,2 , Hugo Bock 1,2 , Tailise Conte Gheno 1,3 and Maria Luiza Saraiva-Pereira 1,2,3,4
... Spinal muscular atrophy (SMA) is a genetic disorder characterized by symmetric proximal muscle weakness due to degeneration of the anterior horn cells of the spinal ...
5
Arq. NeuroPsiquiatr. vol.65 número1
... with spinal muscular atrophy (SMA); one had alterations in muscular fibers com- patible with congenital myopathy; two had sarcogly- can deficiency; and seven had alterations compati- ble with ...
4
X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon
... X-linked spinal and bulbar muscular atrophy (Kennedy’s disease) is a rare X-linked, recessive, lower motor neuron disease, characterized by weakness, atrophy, and fasciculations of the ...
5
PDF EN Jornal Brasileiro de Pneumologia 6 1 english
... 3. Marques TB, Neves Jde C, Portes LA, Salge JM, Zanoteli E, Reed UC. Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital ...
2