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Items: 8


Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

Elsayed LE, Mohammed IN, Hamed AA, Elseed MA, Johnson A, Mairey M, Mohamed HE, Idris MN, Salih MA, El-Sadig SM, Koko ME, Mohamed AY, Raymond L, Coutelier M, Darios F, Siddig RA, Ahmed AK, Babai AM, Malik HM, Omer ZM, Mohamed EO, Eltahir HB, Magboul NA, Bushara EE, Elnour A, Rahim SM, Alattaya A, Elbashir MI, Ibrahim ME, Durr A, Audhya A, Brice A, Ahmed AE, Stevanin G.

Eur J Hum Genet. 2016 Jan;25(1):100-110. doi: 10.1038/ejhg.2016.108. Epub 2016 Sep 7.


Identification of the GTPase-activating protein DEP domain containing 1B (DEPDC1B) as a transcriptional target of Pitx2.

Wu D, Zhu X, Jimenez-Cowell K, Mold AJ, Sollecito CC, Lombana N, Jiao M, Wei Q.

Exp Cell Res. 2015 Apr 10;333(1):80-92. doi: 10.1016/j.yexcr.2015.02.008. Epub 2015 Feb 19.


De novo mutations discovered in 8 Mexican American families through whole genome sequencing.

Wang H, Zhu X.

BMC Proc. 2014 Jun 17;8(Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo):S24. doi: 10.1186/1753-6561-8-S1-S24. eCollection 2014.


Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Tzoulis C, Johansson S, Haukanes BI, Boman H, Knappskog PM, Bindoff LA.

PLoS One. 2013 Jun 13;8(6):e66145. doi: 10.1371/journal.pone.0066145. Print 2013.


Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Romano A, Tessa A, Barca A, Fattori F, de Leva MF, Terracciano A, Storelli C, Santorelli FM, Verri T.

Hum Mutat. 2013 Mar;34(3):525-37. doi: 10.1002/humu.22269.


Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.

Vermeer S, Meijer RP, Hofste TG, Bodmer D, Bosgoed EA, Cremers FP, Kremer BH, Knoers NV, Scheffer H.

J Mol Diagn. 2009 Nov;11(6):514-23. doi: 10.2353/jmoldx.2009.090059. Epub 2009 Sep 24.


ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B.

Neurogenetics. 2008 Jul;9(3):207-14. doi: 10.1007/s10048-008-0131-7. Epub 2008 May 9. Erratum in: Neurogenetics. 2009 Feb;10(1):87.


Autosomal recessive cerebellar ataxias.

Palau F, Espinós C.

Orphanet J Rare Dis. 2006 Nov 17;1:47. Review.

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