Lista de obras - Anna-Elina Lehesjoki - Dominio Público Uruguay

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

artículo científico publicado en 2013

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

artículo científico publicado en 2011

A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy

artículo científico publicado en 2007

A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis

artículo científico publicado en 2015

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

artículo científico publicado en 2016

Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1).

artículo científico publicado en 2009

BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma

artículo científico publicado en 2016

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

scientific article published on 17 August 2016

CHD2 variants are a risk factor for photosensitivity in epilepsy

artículo científico publicado en 2015

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

artículo científico publicado en 2006

Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing

artículo científico publicado en 2006

Clinical features and genetics of Unverricht-Lundborg disease.

artículo científico publicado en 2002

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 ⬇️

artículo científico publicado el 2 de mayo de 2003

Cohen syndrome in the Ohio Amish.

artículo científico publicado en 2004

Cortical sensorimotor alterations in Unverricht-Lundborg disease patients without generalized seizures

artículo científico publicado en 2002

Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1

scientific journal article

Cystatin-B is expressed by neural stem cells and by differentiated neurons and astrocytes

artículo científico publicado en 2003

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

artículo científico publicado en 2015

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

artículo científico publicado en 2013

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

artículo científico publicado en 2014

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

Deficient mitochondrial Ca(2+) buffering in the Cln8(mnd) mouse model of neuronal ceroid lipofuscinosis

artículo científico publicado en 2011

Defining the phenotypic spectrum of SLC6A1 mutations

artículo científico publicado en 2018

Digenic mutations in severe myoclonic epilepsy of infancy

artículo científico publicado en 2009

Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings

artículo científico publicado en 2013

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

artículo científico publicado en 2016

Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1.

artículo científico publicado en 2012

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents

artículo científico publicado en 2003

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

artículo científico publicado en 2016

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

artículo científico publicado en 2017

Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia

artículo científico publicado en 2016

Genetic heterogeneity in infantile spasms

scientific article published on 29 July 2019

Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis

artículo científico publicado en 2009

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

artículo científico publicado en 2012

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas

artículo científico publicado en 2009

High-Resolution Mapping and Transcript Identification at the Progressive Epilepsy with Mental Retardation Locus on Chromosome 8p ⬇️

artículo científico publicado el 1 de septiembre de 1997

Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy

artículo científico publicado en 2015

Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study

artículo científico publicado en 2016

Insulin resistance syndrome in subjects with mutated RING finger protein TRIM37

artículo científico publicado en 2005

Investigation of GRIN2A in common epilepsy phenotypes

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Leukoencephalopathy, cerebral calcifications and cysts: a family study

artículo científico publicado en 2014

Linkage and association analysis of CACNG3 in childhood absence epilepsy

artículo científico publicado en 2007

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells

artículo científico publicado en 2004

Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A.

artículo científico publicado en 2017

Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

artículo científico publicado en 2010

Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study

artículo científico publicado en 2005

Molecular background of EPM1-Unverricht-Lundborg disease

artículo científico publicado en 2007

Molecular background of progressive myoclonus epilepsy

artículo científico publicado en 2003

Molecular genetics of the NCLs -- status and perspectives

artículo científico publicado en 2006

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

artículo científico publicado en 2009

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts

artículo científico publicado en 2012

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

artículo científico publicado en 2013

Mutations in prickle orthologs cause seizures in flies, mice, and humans

artículo científico publicado en 2011

Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study

artículo científico publicado en 2005

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome

artículo científico publicado en 2008

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).

artículo científico publicado en 2008

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

artículo científico publicado en 2012

Novel mutations in the TRIM37 gene in Mulibrey Nanism

artículo científico publicado en 2004

PRRT2-related disorders: further PKD and ICCA cases and review of the literature

artículo científico publicado en 2013

Pitfalls in genetic testing: the story of missed SCN1A mutations

artículo científico publicado en 2016

Progressive myoclonus epilepsy associated with SACS gene mutations

artículo científico publicado en 2016

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy

artículo científico publicado en 2002

Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study

artículo científico publicado en 2015

Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

artículo científico publicado en 2017

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain ⬇️

artículo científico publicado el 19 de octubre de 2010

Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice

artículo científico publicado en 2012

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

artículo científico publicado en 2015

Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy

artículo científico

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

artículo científico publicado en 2011

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults

artículo científico publicado en 2016

Sodium Channel SCN3A (Na1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q.

artículo científico publicado en 2009

TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase

artículo científico publicado en 2005

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

artículo científico publicado en 2016

The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.

artículo científico publicado en 2007

The GENCODE exome: sequencing the complete human exome

artículo científico publicado en 2011

The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder

artículo científico publicado en 2002

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

artículo científico publicado en 2005

The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy

artículo científico publicado en 2005

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

artículo científico publicado en 2007

The spectrum of intermediate SCN8A-related epilepsy

scientific article published on 10 April 2019

Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues

artículo científico publicado en 2006

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.

artículo científico publicado en 2007

Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism

artículo científico publicado en 2016

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

artículo científico publicado en 2002

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

artículo científico publicado en 2011

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

artículo científico publicado en 2004

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta

artículo científico publicado en 2013

White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice

artículo científico publicado en 2013

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

artículo científico publicado en 2017

Lista de obras de Anna-Elina Lehesjoki

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy

A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1).

BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

CHD2 variants are a risk factor for photosensitivity in epilepsy

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing

Clinical features and genetics of Unverricht-Lundborg disease.

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 ⬇️

Cohen syndrome in the Ohio Amish.

Cortical sensorimotor alterations in Unverricht-Lundborg disease patients without generalized seizures

Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1

Cystatin-B is expressed by neural stem cells and by differentiated neurons and astrocytes

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

Deficient mitochondrial Ca(2+) buffering in the Cln8(mnd) mouse model of neuronal ceroid lipofuscinosis

Defining the phenotypic spectrum of SLC6A1 mutations

Digenic mutations in severe myoclonic epilepsy of infancy

Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1.

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia

Genetic heterogeneity in infantile spasms

Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas

High-Resolution Mapping and Transcript Identification at the Progressive Epilepsy with Mental Retardation Locus on Chromosome 8p ⬇️

Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy

Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study

Insulin resistance syndrome in subjects with mutated RING finger protein TRIM37

Investigation of GRIN2A in common epilepsy phenotypes

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

Leukoencephalopathy, cerebral calcifications and cysts: a family study

Linkage and association analysis of CACNG3 in childhood absence epilepsy

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells

Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A.

Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study

Molecular background of EPM1-Unverricht-Lundborg disease

Molecular background of progressive myoclonus epilepsy

Molecular genetics of the NCLs -- status and perspectives

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Mutations in prickle orthologs cause seizures in flies, mice, and humans

Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Novel mutations in the TRIM37 gene in Mulibrey Nanism

PRRT2-related disorders: further PKD and ICCA cases and review of the literature

Pitfalls in genetic testing: the story of missed SCN1A mutations

Progressive myoclonus epilepsy associated with SACS gene mutations

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy

Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study

Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain ⬇️

Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy

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

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults

Sodium Channel SCN3A (Na1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q.

TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.

The GENCODE exome: sequencing the complete human exome