Muscular atrophy
Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy.
... Spinal Muscular Atrophy (SMA) is a leading genetic cause of infant mortality, with a carrier frequency of 1:50 and an annual incidence of 1 in 10,000 live births ...muscle atrophy, and ultimately ...
14
X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon
... Spinal and bulbar muscular atrophy is often confused with amyotrophic lateral sclerosis (ALS), about one in 25 individuals diagnosed with ALS actually has SBMA. For this reason, ALS is an important ...
5
CLINICAL AND MOLECULAR ANALYSIS OF SPINAL MUSCULAR ATROPHY IN BRAZILIAN PATIENTS
... spinal muscular atrophy: improved molecular detection and genotype-phenotype ...Spinal muscular atrophies: recent in- sights and impact on molecular ...
6
Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy.
... bulbar muscular atrophy (SBMA) or Kennedy’s disease is an X-linked CAG/polyglutamine expansion motoneuron disease, in which an elongated polyglutamine tract (polyQ) in the N-terminal androgen receptor ...
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
Inhibition of apoptosis blocks human motor neuron cell death in a stem cell model of spinal muscular atrophy.
... Spinal muscular atrophy (SMA) is a recessively inherited pediatric neuromuscular disease characterized by degeneration of spinal motor neurons, resulting in progressive muscle wasting, paralysis, and often ...
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 (SMA), ...
10
Therapeutic advances in 5q-linked spinal muscular atrophy
... Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 ...
8
Transcriptional profile of muscle following acute induction of symptoms in a mouse model of Kennedy's disease/spinobulbar muscular atrophy.
... Disease/Spinobulbar muscular atrophy (KD/SBMA) is an X-linked, androgen- dependent neuromuscular disease caused by polyglutamine (polyQ) mutation of the androgen receptor (AR) gene ...
16
Spinal muscular atrophy 5Q – Treatment with nusinersen
... The spinal muscular atrophy (SMA) is a neurode- generative condition with autosomal recessive genetic inheritance. It is caused by a homozygous deletion of the survival motor neuron gene (SMN1). This ...
8
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 neuropediatrics ...
6
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.
... Nonetheless, our data show that specific structural NMJ phenotypes are very sensitive to small changes in SMN levels selectively in motor neurons and thus can be mitigated by very small [r] ...
11
Arq. NeuroPsiquiatr. vol.71 número10
... . It is believed that only 200 patients are afected worldwide. he main clinical in- dings are late onset (after 45 years) with proximal weakness, fasciculations, cramps, muscular atrophy, and absent re- ...
3
Arq. NeuroPsiquiatr. vol.65 número1
... 13. Summers BA, Swash M, Swartz MS, Ingram DA. Juvenile onset bul- bospinal muscular atrophy with deafness: Vialetto-van Laere syndrome or Madras type motor neuron disease? J Neurol 1987;234:440-442. 14. ...
4
PDF EN Jornal Brasileiro de Pneumologia 5 9 english
... 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
J. bras. pneumol. vol.40 número5
... 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
Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.
... 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
Histochemical Analysis of Paraspinal Rotator Muscles From Patients With Adolescent Idiopathic Scoliosis A Cross-Sectional Study
... for muscular atrophy and hyper- trophy, fatty proliferation, endomysial and perimysial fibrosis, presence of hyaline fibers, mitochondrial proliferation, muscu- lar necrosis, nuclear centralization, type ...
4
Anestesia em paciente com doença de Steinert: relato de caso.
... for a hemorrhoidectomy. On physical exam the patient was anxious, awake, oriented in time and space, with muscular atrophy of the limbs, trunk, and face. He was incapable of walking, moving about on a wheel ...
5