Next generation sequencing for molecular diagnosis of neuromuscular diseases.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 2, p. 273, doi. 10.1007/s00401-012-0982-8
- By:
- Publication type:
- Article
Works matching IS 00016322 AND DT 2012 AND VI 124 AND IP 2
Results: 12
1
2
TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.
- Published in:
- 2012
- By:
- Publication type:
- Report
3
Periventricular white matter immunoglobulin lambda light chain deposition disease diagnosed by proteomic analysis.
- Published in:
- 2012
- By:
- Publication type:
- Letter
4
Protein degradation pathways in Parkinson's disease: curse or blessing.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 2, p. 153, doi. 10.1007/s00401-012-1004-6
- By:
- Publication type:
- Article
5
Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 2, p. 259, doi. 10.1007/s00401-012-0957-9
- By:
- Publication type:
- Article
6
Autophagic adapter protein NBR1 is localized in Lewy bodies and glial cytoplasmic inclusions and is involved in aggregate formation in α-synucleinopathy.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 2, p. 173, doi. 10.1007/s00401-012-0975-7
- By:
- Publication type:
- Article
7
Mitochondrial DNA polymorphisms specifically modify cerebral β-amyloid proteostasis.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 2, p. 199, doi. 10.1007/s00401-012-0980-x
- By:
- Publication type:
- Article
8
Distinct disease-risk groups in pediatric supratentorial and posterior fossa ependymomas.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 2, p. 247, doi. 10.1007/s00401-012-0981-9
- By:
- Publication type:
- Article
9
Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 2, p. 221, doi. 10.1007/s00401-012-0985-5
- By:
- Publication type:
- Article
10
Long-term proteasomal inhibition in transgenic mice by UBB expression results in dysfunction of central respiration control reminiscent of brainstem neuropathology in Alzheimer patients.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 2, p. 187, doi. 10.1007/s00401-012-1003-7
- By:
- Publication type:
- Article
11
Clonally expanded mitochondrial DNA deletions within the choroid plexus in multiple sclerosis.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 2, p. 209, doi. 10.1007/s00401-012-1001-9
- By:
- Publication type:
- Article
12
TDP-43 regulates the mammalian spinogenesis through translational repression of Rac1.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 2, p. 231, doi. 10.1007/s00401-012-1006-4
- By:
- Publication type:
- Article