Wetenschappelijke artikelen

2018


Schols L, Kruger R, Amoiridis G, Przuntek H, Epplen J, Riess O.

Journal of Neurology, Neurosurgery, and Psychiatry. 1998;64(1):67-73.

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.

Watson, L.M., Wong, M.M.K., Vowles, J. et al.

Cerebellum (2018). 

A Simplified Method for Generating Purkinje Cells from Human-Induced Pluripotent Stem Cells

https://doi.org/10.1007/s12311-017-0913-2

Pastor, P.D.H., Du, X., Fazal, S. et al.

Cerebellum (2018). 

Targeting the CACNA1A IRES as a Treatment for Spinocerebellar Ataxia Type 6

https://doi.org/10.1007/s12311-018-0917-6

Olivito, G., Lupo, M., Iacobacci, C. et al.

J Neurol (2018)

Structural cerebellar correlates of cognitive functions in spinocerebellar ataxia type 2
https://doi.org/10.1007/s00415-018-8738-6

Adam J. Kanack, Oliver J Newsom and Kenneth Matthew Scaglione
JBC 2018 Januari
Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP

doi: 10.1074/jbc.RA117.000477

Khan E, Tawani A, Mishra SK, Verma AK, Upadhyay A, Kumar M, Sandhir R, Mishra A, Kumar A.
ACS Chem. Biol. 2018, 13, 180 - 188:
Myricetin Reduces Toxic Level of CAG Repeats RNA in Huntington’s Disease (HD) and Spino Cerebellar Ataxia (SCAs)
doi: 10.1021/acschembio.7b00699

Mathilde Renaud, MD, PhD; Maria-Céu Moreira, PhD; Bondo Ben Monga, PhD; et al

JAMA Neurol. Published online January 22, 2018:

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1
doi: 10.1001/jamaneurol.2017.4373

2017

J Tissue Eng Regen Med. 2017 Dec 8
Bone marrow transplantation improves motor activity in a mouse model of ataxia

Cerebellum & Ataxias 2017 4:19
Heritability of saccadic eye movements in spinocerebellar ataxia type 2: insights into an endophenotype marker

Cerebellum & Ataxias 2017 4:20

Cerebellar ataxia with sensory ganglionopathy; does autoimmunity have a role to play?

The American Journal of Human Genetics 101, 451–458; September 7, 2017

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

2015

Neurology. 2015 Mar 17; 84(11): 1174–1176:
SPG7 mutations are a common cause of undiagnosed ataxia

2004

Neurology Jan 2004, 62 (1) 17-22:

Clinical spectrum of episodic ataxia type 2