Found: 10
Select item for more details and to access through your institution.
A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00580
- By:
- Publication type:
- Article
Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.
- Published in:
- Journal of Child Neurology, 2017, v. 32, n. 1, p. 60, doi. 10.1177/0883073816664668
- By:
- Publication type:
- Article
Cholestenoic acids regulate motor neuron survival via liver X receptors.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 11, p. 4829, doi. 10.1172/JCI68506
- By:
- Publication type:
- Article
The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 7, p. 1710, doi. 10.1093/brain/awl104
- By:
- Publication type:
- Article
Epilepsy in Tubulinopathy: Personal Series and Literature Review.
- Published in:
- Cells (2073-4409), 2019, v. 8, n. 7, p. 669, doi. 10.3390/cells8070669
- By:
- Publication type:
- Article
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. 1104, doi. 10.1002/humu.21012
- By:
- Publication type:
- Article
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2319
- By:
- Publication type:
- Article
Cloning of a human homologue of the Xenopus Iaevis APX gene from the ocular albinism type 1 critical region.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 3, p. 373
- By:
- Publication type:
- Article
A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1155
- By:
- Publication type:
- Article
A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1).
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 647
- By:
- Publication type:
- Article