| scholarly article | Q13442814 |
| P50 | author | Andrew Singleton | Q4758591 |
| Elsdon Storey | Q5367479 | ||
| John Anthony Hardy | Q6237755 | ||
| Huaibin Cai | Q48206451 | ||
| Dena G. Hernandez | Q64856786 | ||
| Mark R Cookson | Q67168137 | ||
| Joyce van de Leemput | Q80740504 | ||
| R J McKinlay Gardner | Q92460411 | ||
| Susan Forrest | Q17517074 | ||
| Elizabeth M. C. Fisher | Q21259007 | ||
| Henry Houlden | Q30089849 | ||
| Paola Giunti | Q30089859 | ||
| Sonja Scholz | Q30362304 | ||
| Katrina Gwinn | Q30501410 | ||
| P2093 | author name string | Hon-Chung Fung | |
| Ian Rafferty | |||
| James T Russell | |||
| Javier Simon-Sanchez | |||
| Jayanth Chandran | |||
| Lynne A Holtzclaw | |||
| Melanie A Knight | |||
| Nick W Wood | |||
| Xian Lin | |||
| P2860 | cites work | Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant | Q44492927 |
| Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus | Q45205176 | ||
| A new autosomal dominant pure cerebellar ataxia | Q48703972 | ||
| Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse | Q57634922 | ||
| The type 1 inositol 1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouse | Q71954986 | ||
| Strategies for multilocus linkage analysis in humans | Q27860521 | ||
| Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel | Q28300848 | ||
| The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases | Q28646261 | ||
| Type 1 inositol 1,4,5-trisphosphate receptor knock-out mice: their phenotypes and their meaning in neuroscience and clinical practice | Q33699274 | ||
| Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency | Q34321165 | ||
| The contactin 4 gene locus at 3p26 is a candidate gene of SCA16. | Q34572711 | ||
| Discovery genetics: serendipity in basic research | Q36265438 | ||
| Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor. | Q36788552 | ||
| Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals | Q40206193 | ||
| Astrocytes in adult rat brain express type 2 inositol 1,4,5-trisphosphate receptors. | Q44060412 | ||
| P275 | copyright license | Creative Commons CC0 License | Q6938433 |
| P6216 | copyright status | copyrighted, dedicated to the public domain by copyright holder | Q88088423 |
| P433 | issue | 6 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | inositol 1,4,5-trisphosphate receptors | Q418917 |
| spinocerebellar ataxia | Q899726 | ||
| Inositol 1,4,5-trisphosphate receptor 1 | Q21495559 | ||
| P304 | page(s) | e108 | |
| P577 | publication date | 2007-06-01 | |
| P1433 | published in | PLOS Genetics | Q1893441 |
| P1476 | title | Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans | |
| P478 | volume | 3 |
| Q22000623 | 'Medusa-head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj/ITPR1 and anti-CARP VIII |
| Q35054597 | A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome |
| Q92482807 | A C1976Y missense mutation in the mouse Ip3r1 gene leads to short-term mydriasis and unfolded protein response in the iris constrictor muscles |
| Q52113858 | A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's. |
| Q91137356 | A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders |
| Q36987090 | A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20 |
| Q30401827 | A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers |
| Q48269069 | A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns. |
| Q37636726 | A novel locus for episodic ataxia:UBR4 the likely candidate |
| Q51034720 | A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. |
| Q33728850 | A positive feedback loop linking enhanced mGluR function and basal calcium in spinocerebellar ataxia type 2 |
| Q35588927 | A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I |
| Q93079752 | Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29 |
| Q38982968 | Advances in Sequencing Technologies for Understanding Hereditary Ataxias: A Review |
| Q37203409 | An update on inherited ataxias |
| Q30482835 | Analysis of phosphatidylinositol-4,5-bisphosphate signaling in cerebellar Purkinje spines |
| Q84383056 | Animal models of human cerebellar ataxias: a cornerstone for the therapies of the twenty-first century |
| Q37479940 | Antibodies to inositol 1,4,5-triphosphate receptor 1 in patients with cerebellar disease |
| Q34990974 | Antibodies to the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) in cerebellar ataxia |
| Q37692582 | Astrocyte-specific overexpressed gene signatures in response to methamphetamine exposure in vitro |
| Q89985788 | Atm deficiency in the DNA polymerase β null cerebellum results in cerebellar ataxia and Itpr1 reduction associated with alteration of cytosine methylation |
| Q21202869 | Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics |
| Q33665814 | Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond |
| Q89963647 | Axonal Endoplasmic Reticulum Dynamics and Its Roles in Neurodegeneration |
| Q27312310 | CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait |
| Q42066419 | Calcium signaling and neurodegeneration. |
| Q39463322 | Calcium signaling and neurodegenerative diseases |
| Q39336233 | Calcium signaling, PKC gamma, IP3R1 and CAR8 link spinocerebellar ataxias and Purkinje cell dendritic development. |
| Q52148923 | Carbonic Anhydrase 8 Expression in Purkinje Cells Is Controlled by PKCγ Activity and Regulates Purkinje Cell Dendritic Growth. |
| Q39019089 | Cardiac inositol 1,4,5-trisphosphate receptors |
| Q26829511 | Cell biology of spinocerebellar ataxia |
| Q38838873 | Cellular and circuit mechanisms underlying spinocerebellar ataxias |
| Q37627670 | Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias |
| Q38915057 | Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways |
| Q89926585 | Cerebellum-enriched protein INPP5A contributes to selective neuropathology in mouse model of spinocerebellar ataxias type 17 |
| Q36315976 | Chronic suppression of inositol 1,4,5-triphosphate receptor-mediated calcium signaling in cerebellar purkinje cells alleviates pathological phenotype in spinocerebellar ataxia 2 mice |
| Q47937579 | Climbing Fiber Development Is Impaired in Postnatal Car8 (wdl) Mice |
| Q34306449 | Computational analysis of calcium signaling and membrane electrophysiology in cerebellar Purkinje neurons associated with ataxia |
| Q34992022 | Computational neurobiology is a useful tool in translational neurology: the example of ataxia |
| Q37619548 | Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias |
| Q36066674 | De novo point mutations in patients diagnosed with ataxic cerebral palsy. |
| Q48139971 | Deletion of Inpp5a causes ataxia and cerebellar degeneration in mice |
| Q35670193 | Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias |
| Q92354437 | Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA) |
| Q38408049 | Disturbed calcium signaling in spinocerebellar ataxias and Alzheimer's disease |
| Q33847761 | Dynamic changes in murine forebrain miR-211 expression associate with cholinergic imbalances and epileptiform activity. |
| Q30497111 | Effect of trehalose on the properties of mutant {gamma}PKC, which causes spinocerebellar ataxia type 14, in neuronal cell lines and cultured Purkinje cells. |
| Q37289638 | Emerging pathogenic pathways in the spinocerebellar ataxias |
| Q42290598 | Endoplasmic Reticulum Malfunction in the Nervous System |
| Q36078445 | Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases |
| Q24299351 | Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13) |
| Q33646440 | From caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs |
| Q34289371 | Functional complementation of Drosophila itpr mutants by rat Itpr1. |
| Q41972506 | Further evidence for the role of IP 3R 1 in regulating subsynaptic gene expression and neuromuscular transmission |
| Q46054363 | Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2. |
| Q34347658 | Genes and genetic testing in hereditary ataxias. |
| Q81331192 | Genome-wide association studies and ALS: are we there yet? |
| Q38500985 | High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. |
| Q39300854 | High-content RNAi screening identifies the Type 1 inositol triphosphate receptor as a modifier of TDP-43 localization and neurotoxicity |
| Q48275616 | Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation |
| Q36384774 | Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling |
| Q39140608 | IP3 receptor mutations and brain diseases in human and rodents. |
| Q49351868 | Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family |
| Q47113303 | Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia |
| Q37201299 | Inositol 1,4,5-tripshosphate receptor, calcium signaling, and polyglutamine expansion disorders |
| Q35109371 | Inositol 1,4,5-trisphosphate receptor 1 mutation perturbs glucose homeostasis and enhances susceptibility to diet-induced diabetes |
| Q34095161 | Inositol 1,4,5-trisphosphate receptor and dSTIM function in Drosophila insulin-producing neurons regulates systemic intracellular calcium homeostasis and flight. |
| Q37893988 | Inositol 1,4,5-trisphosphate receptor-mediated calcium release in Purkinje cells: from molecular mechanism to behavior. |
| Q49666213 | Inositol 1,4,5-trisphosphate receptors and neurodegenerative disorders |
| Q33946097 | Inositol trisphosphate receptor Ca2+ release channels in neurological diseases |
| Q36042568 | Inositol trisphosphate receptors in smooth muscle cells |
| Q34610494 | Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial |
| Q26864714 | 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 |
| Q30488393 | Intracellular Ca2+ signaling and store-operated Ca2+ entry are required in Drosophila neurons for flight |
| Q38168374 | Intracellular calcium channels: inositol-1,4,5-trisphosphate receptors |
| Q37942052 | Intracellular organelles in the saga of Ca2+ homeostasis: different molecules for different purposes? |
| Q35178635 | Investigating perturbed pathway modules from gene expression data via structural equation models |
| Q48505897 | Ion channel dysfunction in cerebellar ataxia |
| Q24324107 | KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients |
| Q43926942 | Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15. |
| Q57161547 | Mendelian disorders and multifactorial traits: the big divide or one for all? |
| Q36535853 | Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia |
| Q34132338 | Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias |
| Q36124905 | Mitochondria: the next (neurode)generation |
| Q38162995 | Modulating Ca2+ release by the IP3R/Ca2+ channel as a potential therapeutic treatment for neurological diseases |
| Q42721064 | Molecular architecture of the inositol 1,4,5-trisphosphate receptor pore |
| Q47139419 | Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias |
| Q50521784 | Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. |
| Q47812801 | Neurological and Motor Disorders: Neuronal Store-Operated Ca2+ Signaling: An Overview and Its Function |
| Q64254880 | Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes |
| Q38808532 | Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force |
| Q64044238 | Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias |
| Q36652552 | Pathogenesis of severe ataxia and tremor without the typical signs of neurodegeneration |
| Q47880472 | Polyglutamine spinocerebellar ataxias - from genes to potential treatments |
| Q26764958 | Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of disease |
| Q83408906 | Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage |
| Q57573937 | Rare gene deletions in genetic generalized and Rolandic epilepsies |
| Q38760864 | Rare neurological channelopathies--networks to study patients, pathogenesis and treatment |
| Q38004919 | Recent advances in the genetics of cerebellar ataxias |
| Q41368463 | Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome |
| Q34981549 | Role of inositol 1,4,5-trisphosphate receptors in pathogenesis of Huntington's disease and spinocerebellar ataxias |
| Q35125192 | SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia |
| Q33831290 | Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series |
| Q39026353 | Spinocerebellar ataxia 15: A phenotypic review and expansion |
| Q30618025 | Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1 |
| Q37223778 | Spinocerebellar ataxia type 23: a genetic update |
| Q57038555 | Spinocerebellar ataxia: an update |
| Q33583184 | Spontaneous Ca2+ Influx in Drosophila Pupal Neurons Is Modulated by IP3-Receptor Function and Influences Maturation of the Flight Circuit |
| Q48270136 | Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene |
| Q27314944 | Store-independent modulation of Ca(2+) entry through Orai by Septin 7. |
| Q26851981 | Structure and function of TMEM16 proteins (anoctamins) |
| Q34381729 | Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia |
| Q53429728 | Targeting potassium channels to treat cerebellar ataxia. |
| Q38241166 | The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability. |
| Q33797885 | The enigma of store-operated ca-entry in neurons: answers from the Drosophila flight circuit |
| Q38018008 | The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics |
| Q52722816 | The role of septin 7 in physiology and pathological disease: A systematic review of current status. |
| Q30410969 | Therapeutic prospects for spinocerebellar ataxia type 2 and 3. |
| Q34143189 | Towards a complete resolution of the genetic architecture of disease |
| Q43191382 | Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15. |
| Q43506578 | Type 1 inositol trisphosphate receptor regulates cerebellar circuits by maintaining the spine morphology of purkinje cells in adult mice |
| Q39257857 | Type-1 metabotropic glutamate receptor signaling in cerebellar Purkinje cells in health and disease. |
| Q38020089 | Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease |
| Q39112358 | Using the shared genetics of dystonia and ataxia to unravel their pathogenesis |
| Q35566648 | Virtual NEURON: a strategy for merged biochemical and electrophysiological modeling |
Search more.