Found: 17
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Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 49, doi. 10.1007/s10048-003-0167-7
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- Article
The development of lysosomal apparatus I. Lysosomal enzyme activities in the liver of mice at perinatal stages and those of their mothers.
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- Journal of Cellular Physiology, 1978, v. 95, n. 3, p. 269, doi. 10.1002/jcp.1040950304
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- Article
Systematic review of economic evaluations investigating education, exercise, and dietary weight management to manage hip and knee osteoarthritis: protocol.
- Published in:
- Systematic Reviews, 2020, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13643-020-01492-6
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- Article
Poly[3-ethyl-1-vinyl-imidazolium] diethyl phosphate/Pebax® 1657 Composite Membranes and Their Gas Separation Performance.
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- Membranes, 2020, v. 10, n. 9, p. 224, doi. 10.3390/membranes10090224
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- Article
Case report Gene conversion events in adult-onset spinal muscular atrophy.
- Published in:
- 2004
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- Book Review
Lifestyle and late effects after poliomyelitis. A risk factor study of two populations.
- Published in:
- Acta Neurologica Scandinavica, 2004, v. 109, n. 2, p. 120, doi. 10.1034/j.1600-0404.2003.00186.x
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- Article
Hyperekplexia in a patient with a brainstem vascular anomaly.
- Published in:
- Acta Neurologica Scandinavica, 1999, v. 99, n. 4, p. 255, doi. 10.1111/j.1600-0404.1999.tb07358.x
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- Publication type:
- Article
Silent Celiac Disease in Patients with Childhood Localization-Related Epilepsies.
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- Epilepsia (Series 4), 2001, v. 42, n. 9, p. 1153, doi. 10.1046/j.1528-1157.2001.45700.x
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- Publication type:
- Article
A splice-junction mutation in SBF2 gene causes autosomal recessive charcot-marie-tooth disease (CMT4B2) in a family from southern italy.
- Published in:
- 2004
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- Publication type:
- Abstract
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
- Published in:
- 2004
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- Publication type:
- Abstract
Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy.
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- 2004
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- Publication type:
- Abstract
An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene.
- Published in:
- Neurological Sciences, 2004, v. 24, n. 6, p. 401, doi. 10.1007/s10072-003-0196-x
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- Publication type:
- Article
Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene.
- Published in:
- Human Mutation, 2000, v. 15, n. 3, p. 299, doi. 10.1002/(SICI)1098-1004(200003)15:3<299::AID-HUMU24>3.0.CO;2-Z
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- Publication type:
- Article
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2.
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- Clinical Genetics, 2008, v. 73, n. 5, p. 486, doi. 10.1111/j.1399-0004.2008.00969.x
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- Article
Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene.
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- Annals of Neurology, 1998, v. 44, n. 5, p. 836, doi. 10.1002/ana.410440522
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- Publication type:
- Article
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.
- Published in:
- European Journal of Neurology, 2014, v. 21, n. 3, p. e25, doi. 10.1111/ene.12305
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- Publication type:
- Article
First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.
- Published in:
- European Journal of Neurology, 2013, v. 20, n. 1, p. e22, doi. 10.1111/ene.12000
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- Publication type:
- Article