Found: 22
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The expanded clinical spectrum of anti-GABABR encephalitis and added value of KCTD16 autoantibodies.
- Published in:
- 2019
- By:
- Publication type:
- journal article
KBP interacts with SCG10, linking Goldberg–Shprintzen syndrome to microtubule dynamics and neuronal differentiation.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3642, doi. 10.1093/hmg/ddq280
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- Publication type:
- Article
Corrigendum: A role for Bicaudal-D2 in radial cerebellar granule cell migration.
- Published in:
- Nature Communications, 2014, v. 5, n. 7, p. 4380, doi. 10.1038/ncomms5380
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- Publication type:
- Article
A role for Bicaudal-D2 in radial cerebellar granule cell migration.
- Published in:
- Nature Communications, 2014, v. 5, n. 3, p. 3411, doi. 10.1038/ncomms4411
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- Publication type:
- Article
A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 5, p. 409, doi. 10.1038/sj.ejhg.5200982
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- Publication type:
- Article
Detection and Characterization of Autoantibodies to Neuronal Cell-Surface Antigens in the Central Nervous System.
- Published in:
- Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2016.00037
- By:
- Publication type:
- Article
Psychiatric phenomena as initial manifestation of encephalitis by anti‐NMDAR antibodies.
- Published in:
- Acta Neuropsychiatrica, 2013, v. 25, n. 3, p. 128, doi. 10.1111/acn.12013
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- Publication type:
- Article
Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15).
- Published in:
- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0016983
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- Publication type:
- Article
Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal-D-related protein 1 (BICDR-1) regulates neuritogenesis.
- Published in:
- EMBO Journal, 2010, v. 29, n. 10, p. 1637, doi. 10.1038/emboj.2010.51
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- Publication type:
- Article
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
- Published in:
- Nature, 1998, v. 393, n. 6686, p. 702, doi. 10.1038/31508
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- Publication type:
- Article
Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II.
- Published in:
- Human Mutation, 1993, v. 2, n. 4, p. 268, doi. 10.1002/humu.1380020406
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- Publication type:
- Article
A ZEBRAFISH MODEL FOR GOLDBERG-SHPRINTZEN SYNDROME.
- Published in:
- FASEB Journal, 2007, v. 21, n. 6, p. A1314, doi. 10.1096/fasebj.21.6.a1314-c
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- Publication type:
- Article
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 11, p. 2158, doi. 10.1093/hmg/ddw082
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- Publication type:
- Article
Differential expression of liprin-α family proteins in the brain suggests functional diversification.
- Published in:
- Journal of Comparative Neurology, 2011, v. 519, n. 15, p. 3040, doi. 10.1002/cne.22665
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- Publication type:
- Article
Identification of delta/notch-like epidermal growth factor-related receptor as the Tr antigen in paraneoplastic cerebellar degeneration.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 6, p. 815, doi. 10.1002/ana.23550
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- Publication type:
- Article
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 14, p. 1725, doi. 10.1093/hmg/ddg180
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- Publication type:
- Article
Characterization of FMR1 proteins isolated from different tissues.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 5, p. 895
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- Publication type:
- Article
Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 45
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- Publication type:
- Article
The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 12, p. 2213
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- Publication type:
- Article
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 615
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- Publication type:
- Article
Dinucleotide repeat polymorphism at D11S994 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1747
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- Publication type:
- Article
Alternative splicing in the fragile X gene FMR1.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 4, p. 399
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- Publication type:
- Article