proline and Autosomal Dominant Cerebellar Ataxia, Type II

proline has been researched along with Autosomal Dominant Cerebellar Ataxia, Type II in 2 studies

Research

Studies (2)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	2 (100.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Abrams, CK; Bainbridge, MN; Caramins, M; Colebatch, JG; Freidin, MM; Gibbs, RA; Hackett, EL; Jhangiani, SN; Lindeman, R; Muzny, DM; Scherer, SS; Wang, M; Wu, Y	1
Michikawa, T; Mikoshiba, K; Nishizawa, M; Nozaki, H; Onodera, O; Yamazaki, H	1

Other Studies

2 other study(ies) available for proline and Autosomal Dominant Cerebellar Ataxia, Type II

Article	Year
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). Human molecular genetics, 2013, Nov-01, Volume: 22, Issue:21 Topics: Base Sequence; Chromosomes, Human, X; Connexins; Evolution, Molecular; Exome; Female; Gap Junction beta-1 Protein; Genes, X-Linked; Genetic Testing; Genetic Variation; HeLa Cells; Humans; Male; Molecular Sequence Data; Mutation, Missense; Pedigree; Phenotype; Phylogeny; Proline; Sequence Alignment; Sequence Analysis, DNA; Serine; Spinocerebellar Ataxias	2013
Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family. Biochemical and biophysical research communications, 2011, Jul-15, Volume: 410, Issue:4 Topics: Amino Acid Substitution; Asian People; Calcium; Cell Line; Humans; Inositol 1,4,5-Trisphosphate Receptors; Leucine; Pedigree; Proline; Protein Isoforms; Spinocerebellar Ataxias	2011

Article

Year

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).

Human molecular genetics, 2013, Nov-01, Volume: 22, Issue:21

Topics: Base Sequence; Chromosomes, Human, X; Connexins; Evolution, Molecular; Exome; Female; Gap Junction beta-1 Protein; Genes, X-Linked; Genetic Testing; Genetic Variation; HeLa Cells; Humans; Male; Molecular Sequence Data; Mutation, Missense; Pedigree; Phenotype; Phylogeny; Proline; Sequence Alignment; Sequence Analysis, DNA; Serine; Spinocerebellar Ataxias

2013

Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family.

Biochemical and biophysical research communications, 2011, Jul-15, Volume: 410, Issue:4

Topics: Amino Acid Substitution; Asian People; Calcium; Cell Line; Humans; Inositol 1,4,5-Trisphosphate Receptors; Leucine; Pedigree; Proline; Protein Isoforms; Spinocerebellar Ataxias

2011