The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men. |
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BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma |
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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy |
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CHD2 variants are a risk factor for photosensitivity in epilepsy |
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Cohen syndrome in the Ohio Amish. |
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Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport |
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Cortical sensorimotor alterations in Unverricht-Lundborg disease patients without generalized seizures. |
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Cystatin-B is expressed by neural stem cells and by differentiated neurons and astrocytes. |
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Decreased Aerobic Capacity in ANO5-Muscular Dystrophy |
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Deficient mitochondrial Ca |
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Defining the phenotypic spectrum of SLC6A1 mutations |
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Digenic mutations in severe myoclonic epilepsy of infancy |
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Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings |
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Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy |
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Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents. |
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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes |
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The GENCODE exome: sequencing the complete human exome |
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The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone |
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Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia |
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Genetic heterogeneity in infantile spasms |
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Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis |
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Genetics of disease |
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Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies |
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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects |
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Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas. |
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Hemophilia A : molecular studies in Finnish families |
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Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy |
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Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study |
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Insulin resistance syndrome in subjects with mutated RING finger protein TRIM37 |
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Investigation of GRIN2A in common epilepsy phenotypes |
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Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene. |
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Leukoencephalopathy, cerebral calcifications and cysts: a family study. |
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Linkage and association analysis of CACNG3 in childhood absence epilepsy |
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Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. |
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Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A. |
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Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia |
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Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study |
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Molecular genetics of the NCLs -- status and perspectives |
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Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts |
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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. |
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Mutations in prickle orthologs cause seizures in flies, mice, and humans |
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Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study. |
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The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy |
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Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10). |
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A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy |
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Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene |
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The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter |
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Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome. |
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A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis |
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy |
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Pitfalls in genetic testing: the story of missed SCN1A mutations |
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PRRT2-related disorders: further PKD and ICCA cases and review of the literature |
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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study |
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A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia |
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Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy |
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Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study. |
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Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders. |
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Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice |
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Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate |
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Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy |
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Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene |
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Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults. |
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Sodium Channel SCN3A (Na1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development |
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The spectrum of intermediate SCN8A-related epilepsy |
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Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q. |
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Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. |
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Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues |
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Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6. |
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TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase |
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Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism |
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The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder |
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Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses |
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USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses |
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Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy |
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White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice. |
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WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta |
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ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss |
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