ANOVA, a putative astrocytic RNA-binding protein gene that maps to chromosome 19q13.3Significant association of the arylalkylamine N-acetyltransferase ( AA-NAT) gene with delayed sleep phase syndromeFunctional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymiaCCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformationsInvestigation of autism and GABA receptor subunit genes in multiple ethnic groupsAssessment of Alzheimer's disease case-control associations using family-based methodsExamination of association of genes in the serotonin system to autismA novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effectA heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood.The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA geneFurther exclusion of FSHD1B from the telomeric region of 10qMutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosisRefined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locusEGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathyNovel mutations in the CDKL5 gene, predicted effects and associated phenotypesNeuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emergingLGI1: a gene involved in epileptogenesis and glioma progression?Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorderA novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC)GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signsEarly onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3ARefined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndromeSpastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum proteinNramp1 is expressed in neurons and is associated with behavioural and immune responses to stress.Expression of the survival of motor neuron (SMN) gene in primary neurons and increase in SMN levels by activation of the N-methyl-D-aspartate glutamate receptorMapping and sequencing rat dishevelled-1: a candidate gene for cerebral ischaemic insult in a rat model of strokeMutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouseA mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small familyA de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterationsMicrocephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis.Mutations in ARID2 are associated with intellectual disabilities.
P1433
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P1433
description
journal
@en
revista científica
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rivista scientifica
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vědecký časopis
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wetenschappelijk tijdschrift van Springer Science+Business Media
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wissenschaftliche Fachzeitschrift
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مجلة
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वैज्ञानिक पत्रिका
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name
Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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label
Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
@es
Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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prefLabel
Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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Neurogenetics
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P243
P3181
P4616
P1055
P1156
P1159
P1160
Neurogenetics
P1250
P1277
P1476
Neurogenetics
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P236
P243
P3181
P407
P571
1997-01-01T00:00:00Z