id:"swepub:oai:DiVA.org:uu-208524"
Sökning: id:"swepub:oai:DiVA.org:uu-208524" > Autosomal recessive...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 02728naa a2200421 4500 | |
| 001 | oai:DiVA.org:uu-208524 | |
| 003 | SwePub | |
| 008 | 131002s2013 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2085242 URI |
| 024 | 7 | a https://doi.org/10.1007/s10048-013-0366-92 DOI |
| 040 | a (SwePub)uu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Yoon, G.4 aut |
| 245 | 1 0 | a Autosomal recessive hereditary spastic paraplegia :b clinical and genetic characteristics of a well-defined cohort |
| 264 | c 2013-06-04 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2013 |
| 338 | a print2 rdacarrier | |
| 520 | a We describe the clinical and genetic features of a well-characterized cohort of patients with autosomal recessive hereditary spastic paraplegia (ARHSP) in the province of Ontario. Patients with documented corticospinal tract abnormalities were screened by whole gene sequencing and multiplex ligation probe amplification for mutations in nine genes known to cause ARHSP. Of a cohort of 39 patients, a genetic diagnosis was established in 17 (44 %) and heterozygous mutations were detected in 8 (21 %). Mutations were most frequent in SPG7 (12 patients), followed by SPG11 (10 patients), PNPLA6 (SPG39, 2 patients), and ZFYVE26 (SPG15, 2 patients). Although there are associations between some clinical manifestations of ARHSP and specific genes, many patients are tested at an early stage of the disease when phenotype/genotype correlations are not obvious. Accurate molecular characterization of well-phenotyped cohorts of patients will be essential to establishing the natural history of these rare degenerative disorders to enable future clinical trials. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
| 653 | a Genetics | |
| 653 | a Genetik | |
| 700 | 1 | a Baskin, Berivanu Uppsala universitet,Medicinsk genetik4 aut0 (Swepub:uu)berba972 |
| 700 | 1 | a Tarnopolsky, M.4 aut |
| 700 | 1 | a Boycott, K. M.4 aut |
| 700 | 1 | a Geraghty, M. T.4 aut |
| 700 | 1 | a Sell, E.4 aut |
| 700 | 1 | a Goobie, S.4 aut |
| 700 | 1 | a Meschino, W.4 aut |
| 700 | 1 | a Banwell, B.4 aut |
| 700 | 1 | a Ray, P. N.4 aut |
| 710 | 2 | a Uppsala universitetb Medicinsk genetik4 org |
| 773 | 0 | t Neurogeneticsd : Springer Science and Business Media LLCg 14:3-4, s. 181-188q 14:3-4<181-188x 1364-6745x 1364-6753 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-208524 |
| 856 | 4 8 | u https://doi.org/10.1007/s10048-013-0366-9 |
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