Works matching IS 13646745 AND DT 2009 AND VI 10 AND IP 4
Results: 14
SCA27 caused by a chromosome translocation: further delineation of the phenotype.
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- Neurogenetics, 2009, v. 10, n. 4, p. 371, doi. 10.1007/s10048-009-0197-x
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- Article
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
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- Neurogenetics, 2009, v. 10, n. 4, p. 363, doi. 10.1007/s10048-009-0195-z
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- Article
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.
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- Neurogenetics, 2009, v. 10, n. 4, p. 337, doi. 10.1007/s10048-009-0194-0
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- Article
Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1.
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- Neurogenetics, 2009, v. 10, n. 4, p. 325, doi. 10.1007/s10048-009-0191-3
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- Article
Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration.
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- Neurogenetics, 2009, v. 10, n. 4, p. 313, doi. 10.1007/s10048-009-0189-x
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- Article
A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs.
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- Neurogenetics, 2009, v. 10, n. 4, p. 359, doi. 10.1007/s10048-009-0188-y
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- Article
Lrrk2 R1441G-related Parkinson’s disease: evidence of a common founding event in the seventh century in Northern Spain.
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- Neurogenetics, 2009, v. 10, n. 4, p. 347, doi. 10.1007/s10048-009-0187-z
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- Article
Ashkenazi Parkinson’s disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries.
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- Neurogenetics, 2009, v. 10, n. 4, p. 355, doi. 10.1007/s10048-009-0186-0
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- Article
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.
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- Neurogenetics, 2009, v. 10, n. 4, p. 307, doi. 10.1007/s10048-009-0185-1
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- Article
The impact of spermine synthase (SMS) mutations on brain morphology.
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- Neurogenetics, 2009, v. 10, n. 4, p. 299, doi. 10.1007/s10048-009-0184-2
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- Article
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
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- Neurogenetics, 2009, v. 10, n. 4, p. 289, doi. 10.1007/s10048-009-0193-1
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- Article
Movement disorder and neuronal migration disorder due to ARFGEF2 mutation.
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- Neurogenetics, 2009, v. 10, n. 4, p. 333, doi. 10.1007/s10048-009-0192-2
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- Article
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease.
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- Neurogenetics, 2009, v. 10, n. 4, p. 319, doi. 10.1007/s10048-009-0190-4
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- Article
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
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- 2009
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