Found: 10
Select item for more details and to access through your institution.
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
A rare association between multiple sclerosis and Charcot-Marie-Tooth type 1B.
- Published in:
- Brain & Behavior, 2016, v. 6, n. 12, p. n/a, doi. 10.1002/brb3.580
- By:
- Publication type:
- Article
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
- Published in:
- Nature Genetics, 2004, v. 36, n. 5, p. 449, doi. 10.1038/ng1341
- By:
- Publication type:
- Article
Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Plants in Menstrual Diseases: A Systematic Study from Italian Folk Medicine on Current Approaches.
- Published in:
- Plants (2223-7747), 2024, v. 13, n. 5, p. 589, doi. 10.3390/plants13050589
- By:
- Publication type:
- Article
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.
- Published in:
- Journal of Neurology, 2002, v. 249, n. 10, p. 1413, doi. 10.1007/s00415-002-0856-4
- By:
- Publication type:
- Article
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.
- Published in:
- Journal of Neurology, 2002, v. 249, n. 10, p. 1398, doi. 10.1007/s00415-002-0849-3
- 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
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.
- Published in:
- Annals of Neurology, 2002, v. 51, n. 6, p. 794, doi. 10.1002/ana.10185
- By:
- Publication type:
- Article
A Simple Method for Diagnosis of Autosomal Recessive Spinal Muscular Atrophy by Denaturing High-Performance Liquid Chromatography.
- Published in:
- Journal of Child Neurology, 2003, v. 18, n. 4, p. 269, doi. 10.1177/08830738030180041301
- By:
- Publication type:
- Article