Found: 9
Select item for more details and to access through your institution.
A novel S379A TARDBP mutation associated to late-onset sporadic ALS.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?
- Published in:
- 2019
- By:
- Publication type:
- Letter
Clinical, genetic and magnetic resonance findings in an Italian patient affected by l-2-hydroxyglutaric aciduria.
- Published in:
- Neurological Sciences, 2011, v. 32, n. 1, p. 95, doi. 10.1007/s10072-010-0416-0
- By:
- Publication type:
- Article
A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 15, p. 3717, doi. 10.3390/ijms20153717
- By:
- Publication type:
- Article
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.
- Published in:
- Child's Nervous System, 2011, v. 27, n. 4, p. 635, doi. 10.1007/s00381-010-1282-z
- By:
- Publication type:
- Article
The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia.
- Published in:
- Muscle & Nerve, 2012, v. 45, n. 6, p. 919, doi. 10.1002/mus.23360
- By:
- Publication type:
- Article
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0779-x
- By:
- Publication type:
- Article
ALS and CHARGE syndrome: a clinical and genetic study.
- Published in:
- Acta Neurologica Belgica, 2018, v. 118, n. 4, p. 629, doi. 10.1007/s13760-018-1029-2
- By:
- Publication type:
- Article
Alternative Splicing of ALS Genes: Misregulation and Potential Therapies.
- Published in:
- Cellular & Molecular Neurobiology, 2020, v. 40, n. 1, p. 1, doi. 10.1007/s10571-019-00717-0
- By:
- Publication type:
- Article