Popular New
- CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants50 daysLehesjoki, A(nna)-E(lina)*Read
- Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice50 daysLehesjoki, A(nna)-E(lina)*Read
- Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS50 daysLehesjoki, A(nna)-E(lina)*Read
- Microglial phagocytosis dysfunction in the dentate gyrus is related to local neuronal activity in a genetic model of epilepsy50 daysLehesjoki, A(nna)-E(lina)*Read
- Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype50 daysLehesjoki, A(nna)-E(lina)*Read
- A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome50 daysLehesjoki, A(nna)-E(lina)*Read
- Genetic heterogeneity in infantile spasms50 daysLehesjoki, A(nna)-E(lina)*Read
- The spectrum of intermediate SCN8A-related epilepsy50 daysLehesjoki, A(nna)-E(lina)*Read
- Kufs or not Kufs: challenging diagnostics of a rare adult-onset neurodegenerative disease50 daysLehesjoki, A(nna)-E(lina)*Read
- Rare gene deletions in genetic generalized and Rolandic epilepsies50 daysLehesjoki, A(nna)-E(lina)*Read
- Sodium Channel SCN3A (Na<sub>V</sub>1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development50 daysLehesjoki, A(nna)-E(lina)*Read
- Rare coding variants in genes encoding GABA<sub>A</sub> receptors in genetic generalised epilepsies: an exome-based case-control study50 daysLehesjoki, A(nna)-E(lina)*Read
- Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases50 daysLehesjoki, A(nna)-E(lina)*Read
- 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) Gene50 daysLehesjoki, A(nna)-E(lina)*Read
- Defining the phenotypic spectrum of SLC6A1 mutations50 daysLehesjoki, A(nna)-E(lina)*Read
- Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders50 daysLehesjoki, A(nna)-E(lina)*Read
- Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A50 daysLehesjoki, A(nna)-E(lina)*Read
- Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K<sup>+</sup> channel properties50 daysLehesjoki, A(nna)-E(lina)*Read
- <em>GRIN2B</em> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects50 daysLehesjoki, A(nna)-E(lina)*Read
- Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy50 daysLehesjoki, A(nna)-E(lina)*Read
- ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss50 daysLehesjoki, A(nna)-E(lina)*Read
- Decreased Aerobic Capacity in ANO5-Muscular Dystrophy50 daysLehesjoki, A(nna)-E(lina)*Read
- Brain inflammation is accompanied by peripheral inflammation in Cstb <sup>-/-</sup> mice, a model for progressive myoclonus epilepsy50 daysLehesjoki, A(nna)-E(lina)*Read
- Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients50 daysLehesjoki, A(nna)-E(lina)*Read
- Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study50 daysLehesjoki, A(nna)-E(lina)*Read
- Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy50 daysLehesjoki, A(nna)-E(lina)*Read
- A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia50 daysLehesjoki, A(nna)-E(lina)*Read
- Pitfalls in genetic testing: the story of missed SCN1A mutations50 daysLehesjoki, A(nna)-E(lina)*Read
- Progressive myoclonus epilepsy associated with SACS gene mutations50 daysLehesjoki, A(nna)-E(lina)*Read
- Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia50 daysLehesjoki, A(nna)-E(lina)*Read
- Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy50 daysLehesjoki, A(nna)-E(lina)*Read
- Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism50 daysLehesjoki, A(nna)-E(lina)*Read
- Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults50 daysLehesjoki, A(nna)-E(lina)*Read
- Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes50 daysLehesjoki, A(nna)-E(lina)*Read
- BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma50 daysLehesjoki, A(nna)-E(lina)*Read
- Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia50 daysLehesjoki, A(nna)-E(lina)*Read
- Investigation of GRIN2A in common epilepsy phenotypes50 daysLehesjoki, A(nna)-E(lina)*Read
- Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate50 daysLehesjoki, A(nna)-E(lina)*Read
- Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia50 daysLehesjoki, A(nna)-E(lina)*Read
- CHD2 variants are a risk factor for photosensitivity in epilepsy50 daysLehesjoki, A(nna)-E(lina)*Read
- Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study50 daysLehesjoki, A(nna)-E(lina)*Read
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy50 daysLehesjoki, A(nna)-E(lina)*Read
- A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy50 daysLehesjoki, A(nna)-E(lina)*Read
- Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM150 daysLehesjoki, A(nna)-E(lina)*Read
- A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis50 daysLehesjoki, A(nna)-E(lina)*Read
- Leukoencephalopathy, cerebral calcifications and cysts: a family study50 daysLehesjoki, A(nna)-E(lina)*Read
- De novo mutations in HCN1 cause early infantile epileptic encephalopathy50 daysLehesjoki, A(nna)-E(lina)*Read
- Progressive volume loss and white matter degeneration in cstb-deficient mice: a diffusion tensor and longitudinal volumetry MRI study50 daysLehesjoki, A(nna)-E(lina)*Read
- Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation50 daysLehesjoki, A(nna)-E(lina)*Read
- De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome50 daysLehesjoki, A(nna)-E(lina)*Read

Impact Factor: 7.105
SJR: 4.458
JUFO: 1.873
Articles: 56
Terkko Factor: 431.3 (√IF*SJR*JUFO * Num)
Based on articles published in the last 12 months.
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