Found: 15
Select item for more details and to access through your institution.
Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non‐microdeletion patients.
- Published in:
- Genes, Chromosomes & Cancer, 2006, v. 45, n. 10, p. 893, doi. 10.1002/gcc.20353
- By:
- Publication type:
- Article
Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
- Published in:
- Movement Disorders, 2012, v. 27, n. 12, p. 1522, doi. 10.1002/mds.25132
- By:
- Publication type:
- Article
Perry syndrome due to the DCTN1 G71R mutation: A distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.
- Published in:
- Movement Disorders, 2010, v. 25, n. 6, p. 767, doi. 10.1002/mds.22950
- By:
- Publication type:
- Article
Parkin-related disease clinically diagnosed as a pallido-pyramidal syndrome.
- Published in:
- Movement Disorders, 2009, v. 24, n. 1, p. 138, doi. 10.1002/mds.22181
- By:
- Publication type:
- Article
Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.
- Published in:
- Human Genetics, 2003, v. 112, n. 1, p. 12, doi. 10.1007/s00439-002-0840-1
- By:
- Publication type:
- Article
The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms.
- Published in:
- Neurogenetics, 2013, v. 14, n. 2, p. 161, doi. 10.1007/s10048-013-0360-2
- By:
- Publication type:
- Article
Tdp-43 cryptic exons are highly variable between cell types.
- Published in:
- Molecular Neurodegeneration, 2017, v. 12, p. 1, doi. 10.1186/s13024-016-0144-x
- By:
- Publication type:
- Article
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
- Published in:
- Neurodegenerative Diseases, 2017, v. 17, n. 4/5, p. 208, doi. 10.1159/000464445
- By:
- Publication type:
- Article
P2‐112: NEXT GENERATION EXOME SEQUENCING IN A LARGE SAMPLE OF ALZHEIMER'S PATIENTS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P712, doi. 10.1016/j.jalz.2018.06.798
- By:
- Publication type:
- Article
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).
- Published in:
- Human Mutation, 2006, v. 27, n. 7, p. 716, doi. 10.1002/humu.9429
- By:
- Publication type:
- Article
Analysis of copy number variation using quantitative interspecies competitive PCR.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 17, p. e112, doi. 10.1093/nar/gkn495
- By:
- Publication type:
- Article
Common polygenic variation enhances risk prediction for Alzheimer's disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p.
- Published in:
- Journal of Neurology, 2011, v. 258, n. 4, p. 647, doi. 10.1007/s00415-010-5815-x
- By:
- Publication type:
- Article
The genetic aetiology of late-onset chronic progressive cerebellar ataxia.
- Published in:
- Journal of Neurology, 2009, v. 256, n. 3, p. 343, doi. 10.1007/s00415-009-0015-2
- By:
- Publication type:
- Article
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
- Published in:
- Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1147-9
- By:
- Publication type:
- Article