| scholarly article | Q13442814 |
| P50 | author | Jozef Gécz | Q16230617 |
| Ingrid Scheffer | Q18687923 | ||
| Gillian Turner | Q28324812 | ||
| Jean-Pierre Fryns | Q28468805 | ||
| Karen M Lower | Q55690369 | ||
| Marie Mangelsdorf | Q55690981 | ||
| Grant R Sutherland | Q87470696 | ||
| P2093 | author name string | John C Mulley | |
| Michael Partington | |||
| Petter Strømme | |||
| Helene Bruyere | |||
| Agi K Gedeon | |||
| Suzanne M E Lewis | |||
| Suzanna G M Frints | |||
| Robyn H Wallace | |||
| Marie A Shaw | |||
| Viggo Lütcherath | |||
| P2860 | cites work | Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired | Q22003954 |
| The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome | Q24290819 | ||
| Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy | Q24308826 | ||
| Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia | Q24309601 | ||
| Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13 | Q24336093 | ||
| Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome | Q24538670 | ||
| Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA | Q28139419 | ||
| X-linked mental retardation with dystonic movements of the hands | Q28292150 | ||
| Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population | Q32061812 | ||
| Molecular evolution of the homeodomain family of transcription factors | Q33941060 | ||
| Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination | Q33941229 | ||
| Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease | Q34185510 | ||
| Monogenic causes of X-linked mental retardation. | Q34354315 | ||
| Conservation and diversification in homeodomain-DNA interactions: a comparative genetic analysis | Q37472883 | ||
| Evolution of homeobox genes: Q50 Paired-like genes founded the Paired class | Q45730610 | ||
| Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate | Q48047643 | ||
| Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1. | Q48207636 | ||
| The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees. | Q50933069 | ||
| Infantile spasms: case report of sex-linked inheritance | Q50991787 | ||
| Clinical study and haplotype analysis in two brothers with Partington syndrome. | Q51952839 | ||
| Origin of anterior patterning. How old is our head? | Q52171697 | ||
| The idiopathic form of West syndrome. | Q52224181 | ||
| Infantile spasms. | Q53895028 | ||
| Genetics of the epilepsies | Q77751949 | ||
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 441-5 | |
| P577 | publication date | 2002-04-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy | |
| P478 | volume | 30 |
| Q37969852 | "Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances |
| Q90291305 | A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies |
| Q35936956 | A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients |
| Q29147508 | A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 |
| Q24678062 | A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome) |
| Q45034215 | A molecular pathogenesis for transcription factor associated poly-alanine tract expansions |
| Q52585953 | A new mouse model of ARX dup24 recapitulates the patients' behavioural and fine motor alterations. |
| Q57733973 | A novel de novo 27 bp duplication of theARXgene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations |
| Q48887866 | A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females |
| Q36886749 | A novel mutation of the ARX gene in a male with nonsyndromic mental retardation. |
| Q36489030 | A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB. |
| Q36322602 | A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death |
| Q28508740 | A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX |
| Q24678726 | A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients |
| Q30484137 | A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment |
| Q57387330 | ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia |
| Q37761093 | ARX spectrum disorders: making inroads into the molecular pathology |
| Q34699414 | Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. |
| Q51953580 | Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23. |
| Q42457411 | Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity |
| Q37352456 | Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons |
| Q28506459 | Arx is required for normal enteroendocrine cell development in mice and humans |
| Q37306566 | Arx polyalanine expansion in mice leads to reduced pancreatic α-cell specification and increased α-cell death |
| Q41841649 | Arx together with FoxA2, regulates Shh floor plate expression |
| Q35447640 | CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms |
| Q40611899 | Caspase 8 mediated apoptotic cell death induced by beta-sheet forming polyalanine peptides |
| Q28571585 | Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis |
| Q30481073 | Central Alveolar Hypoventilation Syndromes |
| Q51259845 | Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD). |
| Q45406859 | Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. |
| Q51952839 | Clinical study and haplotype analysis in two brothers with Partington syndrome. |
| Q33654193 | Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes |
| Q94558233 | Constraint and conservation of the paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance |
| Q40576904 | Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene |
| Q27641843 | Crystal structures of engrailed homeodomain mutants: implications for stability and dynamics |
| Q29147516 | De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome |
| Q39081926 | De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy |
| Q92807361 | Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita |
| Q89146104 | Deregulation of RNA Metabolism in Microsatellite Expansion Diseases |
| Q34192123 | Developing an animal model for infantile spasms: pathogenesis, problems and progress |
| Q39172712 | Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. |
| Q24682949 | Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice |
| Q24532056 | Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation |
| Q41120875 | Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations |
| Q34249436 | Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? |
| Q34116923 | Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay |
| Q37139826 | Drosophila melanogaster as a model organism of brain diseases |
| Q52618608 | Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). |
| Q51928093 | Early onset seizures and Rett-like features associated with mutations in CDKL5. |
| Q36535757 | Early rescue of interneuron disease trajectory in developmental epilepsies. |
| Q46716121 | Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females |
| Q34493734 | Epilepsy in children |
| Q50303733 | Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH. |
| Q39147509 | Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts |
| Q38040452 | Epileptic encephalopathies (including severe epilepsy syndromes). |
| Q36058190 | Estradiol does not affect spasms in the betamethasone-NMDA rat model of infantile spasms. |
| Q34575712 | Ethical, legal, and social dimensions of epilepsy genetics |
| Q47759164 | Expanded polyalanine tracts function as nuclear export signals and promote protein mislocalization via eEF1A1 factor. |
| Q24610524 | FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation |
| Q81430287 | Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation |
| Q37220081 | Forty years from markers to genes |
| Q27027343 | Fragile X and X-linked intellectual disability: four decades of discovery |
| Q33691683 | Gene expression profiling and real-time PCR analyses identify novel potential cancer-testis antigens in multiple myeloma |
| Q37108117 | Genetic and environmental factors in complex neurodevelopmental disorders |
| Q37774544 | Genetic evaluation and counseling for epilepsy |
| Q28242257 | Genetic malformations of cortical development |
| Q35152981 | Genetic testing in epilepsy: what should you be doing? |
| Q33794130 | Genetic testing in the epilepsies--report of the ILAE Genetics Commission |
| Q36925220 | Genetic variations and associated pathophysiology in the management of epilepsy. |
| Q33506556 | Genetics and biology of microcephaly and lissencephaly |
| Q38164570 | Genetics, molecular biology, and phenotypes of x-linked epilepsy |
| Q41331099 | Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome |
| Q34479643 | Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. |
| Q35245310 | Glial development and function in the nervous system of Caenorhabditis elegans |
| Q40728608 | Go "West," young man...The quest for animal models of infantile spasms (West syndrome). |
| Q28160539 | Human ARX gene: genomic characterization and expression |
| Q36967946 | Identification of Arx transcriptional targets in the developing basal forebrain |
| Q50345064 | Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing |
| Q46242568 | Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. |
| Q79276040 | Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b |
| Q28591633 | Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation |
| Q36744661 | Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. |
| Q28216034 | Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX |
| Q38008151 | Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms. |
| Q48016847 | Intracellular localization of homopolymeric amino acid-containing proteins expressed in mammalian cells |
| Q47351608 | Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions. |
| Q36403915 | Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation? |
| Q41918964 | Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome |
| Q33283739 | MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions |
| Q56232683 | Malformations of cortical development |
| Q48445847 | Mapping an X-linked locus that influences heat-induced febrile seizures in mice |
| Q24678468 | Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity |
| Q51927335 | Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation. |
| Q52618070 | Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay. |
| Q50773650 | Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders. |
| Q48585931 | Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes |
| Q40134823 | Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene |
| Q43804873 | Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. |
| Q34349426 | Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons |
| Q28207647 | Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans |
| Q36783161 | Mutation screening of the ARX gene in patients with autism |
| Q51914749 | Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology. |
| Q34157672 | Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome |
| Q24682652 | Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus |
| Q33998564 | Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation |
| Q24530632 | Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation |
| Q41938321 | Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients |
| Q34581217 | Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation |
| Q24532155 | Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation |
| Q33641779 | Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division |
| Q41921583 | Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation |
| Q33910551 | Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. |
| Q37085097 | Navigating the channels and beyond: unravelling the genetics of the epilepsies |
| Q30578899 | Neonatal estradiol stimulation prevents epilepsy in Arx model of X-linked infantile spasms syndrome. |
| Q30990797 | Neuronal migration disorders, genetics, and epileptogenesis |
| Q92542992 | New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies |
| Q33872483 | No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set. |
| Q34205119 | Nonsyndromic X-linked mental retardation: where are the missing mutations? |
| Q36241459 | Nonsyndromic microcephaly: an overview |
| Q30418208 | Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. |
| Q91643968 | Novel ARX mutation identified in infantile spasm syndrome patient |
| Q41934017 | Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly |
| Q34328518 | Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). |
| Q33318140 | Origin and evolution of candidate mental retardation genes on the human X chromosome (MRX) |
| Q24531513 | Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism |
| Q38100286 | PABPN1: molecular function and muscle disease |
| Q27308052 | Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies |
| Q48456638 | Pathways of neuronal migration |
| Q47215690 | Phf8 histone demethylase deficiency causes cognitive impairments through the mTOR pathway |
| Q24297880 | Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome |
| Q42609875 | Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains |
| Q36291936 | Profile of Social, Environmental and Biological Correlates in Intellectual Disability in A Resource-Poor Setting in India |
| Q37771717 | Protein homorepeats sequences, structures, evolution, and functions |
| Q26777746 | Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice |
| Q52551093 | Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. |
| Q48955295 | Recombineered Xenopus tropicalis BAC expresses a GFP reporter under the control of Arx transcriptional regulatory elements in transgenic Xenopus laevis embryos |
| Q34079415 | Regulation of histone H3K4 methylation in brain development and disease |
| Q37058511 | Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX. |
| Q50262946 | Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree |
| Q24674633 | Rett syndrome: clinical review and genetic update |
| Q53577198 | Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification. |
| Q34566623 | Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly |
| Q50311390 | Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene |
| Q50123029 | Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis |
| Q47336770 | Screening of the ARX gene in 682 retarded males. |
| Q24594966 | Seizures and X-linked intellectual disability |
| Q92027741 | Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy |
| Q38622672 | Single-Gene Determinants of Epilepsy Comorbidity |
| Q33408779 | Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females |
| Q39616112 | Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome |
| Q34049748 | The Caenorhabditis elegans aristaless orthologue, alr-1, is required for maintaining the functional and structural integrity of the amphid sensory organs |
| Q21735931 | The DNA sequence of the human X chromosome |
| Q52109672 | The OAR/aristaless domain of the homeodomain protein Cart1 has an attenuating role in vivo. |
| Q35860293 | The Role of ARX in Human Pancreatic Endocrine Specification |
| Q35550542 | The biology of epilepsy genes |
| Q30577795 | The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia |
| Q34283901 | The genetic basis of non-syndromic intellectual disability: a review |
| Q38644331 | The genetic landscape of the epileptic encephalopathies of infancy and childhood. |
| Q30826834 | The genetics of lissencephaly |
| Q36245342 | The genome and the nucleus: a marriage made by evolution. Genome organisation and nuclear architecture |
| Q40068711 | The homeobox gene Arx is a novel positive regulator of embryonic myogenesis. |
| Q36402754 | The motor circuit |
| Q35166492 | The ongoing dissection of the genetic architecture of autistic spectrum disorder |
| Q43232391 | The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene |
| Q39332606 | The role of genetic testing in epilepsy diagnosis and management |
| Q45245303 | The vertebrate ortholog of Aristaless is regulated by Dlx genes in the developing forebrain |
| Q24561792 | Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency |
| Q50446932 | Two new familial severe infantile spasm syndromes in males |
| Q28080066 | Understanding Genotypes and Phenotypes in Epileptic Encephalopathies |
| Q35648072 | Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach |
| Q38089667 | Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders |
| Q28207231 | Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation |
| Q33670246 | Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies |
| Q64102416 | Why Malformations of Cortical Development Cause Epilepsy |
| Q57048955 | Wwox deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus |
| Q36239035 | X linked mental retardation: a clinical guide |
| Q34088379 | X-linked intellectual disability: unique vulnerability of the male genome |
| Q42478885 | X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy". |
| Q56270643 | X-linked mental retardation |
| Q33205129 | X-linked mental retardation (XLMR): from clinical conditions to cloned genes |
| Q24534259 | X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family |
| Q35104772 | X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations. |
| Q35026980 | X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms |
| Q51947561 | X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. |
| Q24810185 | XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene |
| Q45198339 | Xenopus aristaless-related homeobox (xARX) gene product functions as both a transcriptional activator and repressor in forebrain development |
| Q37861644 | Zebrafish as a genomics model for human neurological and polygenic disorders |
| Q48829325 | xArx2: an aristaless homolog that regulates brain regionalization during development in Xenopus laevis |
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