Pages that link to "Q48229743"
Jump to navigation
Jump to search
The following pages link to Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. (Q48229743):
Displaying 50 items.
- Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases (Q24321986) (← links)
- Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery (Q26744730) (← links)
- Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of disease (Q26764958) (← links)
- Genetic neurological channelopathies: molecular genetics and clinical phenotypes (Q26777559) (← links)
- Neuronal and Cardiovascular Potassium Channels as Therapeutic Drug Targets: Promise and Pitfalls (Q26798018) (← links)
- Integration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxia (Q26864714) (← links)
- What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases (Q27008201) (← links)
- A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia (Q28115409) (← links)
- A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia (Q28116910) (← links)
- Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner (Q30660594) (← links)
- Detecting a weak association by testing its multiple perturbations: a data mining approach (Q30827093) (← links)
- Genetic associations for keratoconus: a systematic review and meta-analysis. (Q33870714) (← links)
- Genes and genetic testing in hereditary ataxias. (Q34347658) (← links)
- Oxidative modulation of K+ channels in the central nervous system in neurodegenerative diseases and aging (Q34444360) (← links)
- Application of next-generation sequencing technologies in Neurology (Q34658348) (← links)
- First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy (Q35696704) (← links)
- Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia (Q35747030) (← links)
- Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study. (Q35776900) (← links)
- Auxiliary KChIP4a suppresses A-type K+ current through endoplasmic reticulum (ER) retention and promoting closed-state inactivation of Kv4 channels (Q36873562) (← links)
- Clinical neurogenetics: autosomal dominant spinocerebellar ataxia (Q37283126) (← links)
- Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias (Q37619548) (← links)
- Lessons learned from additional research analyses of unsolved clinical exome cases (Q37715741) (← links)
- Cerebellar and afferent ataxias (Q38149017) (← links)
- Next-generation sequencing applied to rare diseases genomics (Q38202142) (← links)
- The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability. (Q38241166) (← links)
- Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing (Q38415567) (← links)
- NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment. (Q38655437) (← links)
- Climbing fibers in spinocerebellar ataxia: A mechanism for the loss of motor control (Q38705074) (← links)
- Rare neurological channelopathies--networks to study patients, pathogenesis and treatment (Q38760864) (← links)
- Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. (Q38833485) (← links)
- Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways (Q38915057) (← links)
- Using the shared genetics of dystonia and ataxia to unravel their pathogenesis (Q39112358) (← links)
- Relationship between type 1 metabotropic glutamate receptors and cerebellar ataxia. (Q40584019) (← links)
- KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability (Q40599284) (← links)
- Pore size matters for potassium channel conductance (Q41189128) (← links)
- Neuronal Atrophy Early in Degenerative Ataxia Is a Compensatory Mechanism to Regulate Membrane Excitability. (Q41486765) (← links)
- The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review (Q42376536) (← links)
- The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together (Q44954695) (← links)
- New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. (Q44968547) (← links)
- Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. (Q46011246) (← links)
- Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia (Q47623915) (← links)
- Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia. (Q48088822) (← links)
- Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia (Q48424286) (← links)
- Ion channel dysfunction in cerebellar ataxia (Q48505897) (← links)
- A novel KCND3 mutation associated with early-onset lone atrial fibrillation (Q49203273) (← links)
- Genetics update: Monogenetics, polygene disorders and the quest for modifying genes (Q50076540) (← links)
- Autosomal-dominant cerebellar ataxias (Q50081382) (← links)
- Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia? (Q50107384) (← links)
- A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies (Q51034720) (← links)
- Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19. (Q52661472) (← links)