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  1. Article: In depth behavioral phenotyping unravels complex motor disturbances in

    Pollari, Eveliina / Tegelberg, Saara / Björklund, Harry / Kälviäinen, Reetta / Lehesjoki, Anna-Elina / Haapalinna, Antti

    Frontiers in behavioral neuroscience

    2023  Volume 17, Page(s) 1325051

    Abstract: Progressive myoclonus epilepsy type 1 (EPM1) is an autosomal recessively inherited childhood-adolescence onset neurodegenerative disease caused by mutations in the cystatin B ( ...

    Abstract Progressive myoclonus epilepsy type 1 (EPM1) is an autosomal recessively inherited childhood-adolescence onset neurodegenerative disease caused by mutations in the cystatin B (
    Language English
    Publishing date 2023-12-21
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2452960-6
    ISSN 1662-5153
    ISSN 1662-5153
    DOI 10.3389/fnbeh.2023.1325051
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Progressive mitochondrial dysfunction in cerebellar synaptosomes of cystatin B-deficient mice.

    Gorski, Katarin / Jackson, Christopher B / Nyman, Tuula A / Rezov, Veronika / Battersby, Brendan J / Lehesjoki, Anna-Elina

    Frontiers in molecular neuroscience

    2023  Volume 16, Page(s) 1175851

    Abstract: The involvement of mitochondrial dysfunction in cystatin B (CSTB) deficiency has been suggested, but its role in the onset of neurodegeneration, myoclonus, and ataxia in the CSTB-deficient mouse model ( ...

    Abstract The involvement of mitochondrial dysfunction in cystatin B (CSTB) deficiency has been suggested, but its role in the onset of neurodegeneration, myoclonus, and ataxia in the CSTB-deficient mouse model (
    Language English
    Publishing date 2023-05-12
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2452967-9
    ISSN 1662-5099
    ISSN 1662-5099
    DOI 10.3389/fnmol.2023.1175851
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  3. Article ; Online: Kufs or not Kufs: challenging diagnostics of a rare adult-onset neurodegenerative disease.

    Tyynelä, Jaana / Lehesjoki, Anna-Elina

    Brain : a journal of neurology

    2018  Volume 142, Issue 1, Page(s) 2–5

    MeSH term(s) Adult ; Humans ; Membrane Proteins/genetics ; Mutation ; Neuronal Ceroid-Lipofuscinoses ; Pedigree
    Chemical Substances CLN6 protein, human ; Membrane Proteins
    Language English
    Publishing date 2018-12-31
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awy312
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    In stock of ZB MED Cologne/Königswinter

    Ui II Zs.26: Show issues Location:
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  4. Article ; Online: Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

    Anttonen, Anna-Kaisa / Lehesjoki, Anna-Elina

    Brain : a journal of neurology

    2017  Volume 140, Issue 8, Page(s) e50

    MeSH term(s) Brain Edema ; Humans ; Neurodegenerative Diseases ; Neurons ; Optic Atrophy ; Spasms, Infantile
    Language English
    Publishing date 2017-09-01
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awx157
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  5. Article ; Online: Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.

    Lehtonen, Johanna / Sulonen, Anna-Maija / Almusa, Henrikki / Lehtokari, Vilma-Lotta / Johari, Mridul / Palva, Aino / Hakonen, Anna H / Wartiovaara, Kirmo / Lehesjoki, Anna-Elina / Udd, Bjarne / Wallgren-Pettersson, Carina / Pelin, Katarina / Savarese, Marco / Saarela, Janna

    Scientific reports

    2024  Volume 14, Issue 1, Page(s) 4306

    Abstract: Rare or novel missense variants in large genes such as TTN and NEB are frequent in the general population, which hampers the interpretation of putative disease-causing biallelic variants in patients with sporadic neuromuscular disorders. Often, when the ... ...

    Abstract Rare or novel missense variants in large genes such as TTN and NEB are frequent in the general population, which hampers the interpretation of putative disease-causing biallelic variants in patients with sporadic neuromuscular disorders. Often, when the first initial genetic analysis is performed, the reconstructed haplotype, i.e. phasing information of the variants is missing. Segregation analysis increases the diagnostic turnaround time and is not always possible if samples from family members are lacking. To overcome this difficulty, we investigated how well the linked-read technology succeeded to phase variants in these large genes, and whether it improved the identification of structural variants. Linked-read sequencing data of nemaline myopathy, distal myopathy, and proximal myopathy patients were analyzed for phasing, single nucleotide variants, and structural variants. Variant phasing was successful in the large muscle genes studied. The longest continuous phase blocks were gained using high-quality DNA samples with long DNA fragments. Homozygosity increased the number of phase blocks, especially in exome sequencing samples lacking intronic variation. In our cohort, linked-read sequencing added more information about the structural variation but did not lead to a molecular genetic diagnosis. The linked-read technology can support the clinical diagnosis of neuromuscular and other genetic disorders.
    MeSH term(s) Humans ; Haplotypes/genetics ; Neuromuscular Diseases/diagnosis ; Neuromuscular Diseases/genetics ; Muscular Diseases ; Myopathies, Nemaline ; DNA ; High-Throughput Nucleotide Sequencing
    Chemical Substances DNA (9007-49-2)
    Language English
    Publishing date 2024-02-21
    Publishing country England
    Document type Journal Article
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-024-54866-4
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  6. Book ; Thesis: Hemophilia A

    Lehesjoki, Anna-Elina

    molecular studies in Finnish families

    1989  

    Author's details Anna-Elina Lehesjoki
    Size 107 S. : Ill., graph. Darst.
    Publishing country Finland
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Helsinki, Univ., Diss., 1989
    HBZ-ID HT003982526
    ISBN 952-90092-2-4 ; 978-952-90092-2-0
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    92 E 379 order for loan Magazin

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  7. Article: Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice.

    Gorski, Katarin / Spoljaric, Albert / Nyman, Tuula A / Kaila, Kai / Battersby, Brendan J / Lehesjoki, Anna-Elina

    Frontiers in molecular neuroscience

    2020  Volume 13, Page(s) 570640

    Abstract: Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is a neurodegenerative disorder caused by loss-of-function mutations in the cystatin B ( ...

    Abstract Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is a neurodegenerative disorder caused by loss-of-function mutations in the cystatin B (
    Language English
    Publishing date 2020-11-13
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2452967-9
    ISSN 1662-5099
    ISSN 1662-5099
    DOI 10.3389/fnmol.2020.570640
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  8. Article ; Online: NCOR2

    Nuottamo, Marjo Eveliina / Häppölä, Paavo / Artto, Ville / Hautakangas, Heidi / Pirinen, Matti / Hiekkalinna, Tero / Ellonen, Pekka / Lepistö, Maija / Hämäläinen, Eija / Siren, Auli / Lehesjoki, Anna-Elina / Kallela, Mikko / Palotie, Aarno / Kaunisto, Mari Anneli / Wessman, Maija

    Cephalalgia : an international journal of headache

    2022  Volume 42, Issue 7, Page(s) 631–644

    Abstract: Hypothesis: To identify genetic factors predisposing to migraine-epilepsy phenotype utilizing a multi-generational family with known linkage to chr12q24.2-q24.3.: Methods: We used single nucleotide polymorphism (SNP) genotyping and next-generation ... ...

    Abstract Hypothesis: To identify genetic factors predisposing to migraine-epilepsy phenotype utilizing a multi-generational family with known linkage to chr12q24.2-q24.3.
    Methods: We used single nucleotide polymorphism (SNP) genotyping and next-generation sequencing technologies to perform linkage, haplotype, and variant analyses in an extended Finnish migraine-epilepsy family (n = 120). In addition, we used a large genome-wide association study (GWAS) dataset of migraine and two biobank studies, UK Biobank and FinnGen, to test whether variants within the susceptibility region associate with migraine or epilepsy related phenotypes in a population setting.
    Results: The family showed the highest evidence of linkage (LOD 3.42) between rs7966411 and epilepsy. The haplotype shared among 12 out of 13 epilepsy patients in the family covers almost the entire
    Conclusion: We provide several independent lines of evidence supporting association between migraine-epilepsy phenotype and
    MeSH term(s) Epilepsy/genetics ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Humans ; Migraine Disorders/genetics ; Nuclear Receptor Co-Repressor 2/genetics ; Phenotype ; Polymorphism, Single Nucleotide/genetics
    Chemical Substances NCOR2 protein, human ; Nuclear Receptor Co-Repressor 2
    Language English
    Publishing date 2022-02-15
    Publishing country England
    Document type Journal Article
    ZDB-ID 604567-4
    ISSN 1468-2982 ; 0333-1024
    ISSN (online) 1468-2982
    ISSN 0333-1024
    DOI 10.1177/03331024211068065
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    Zs.A 1645: Show issues Location:
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  9. Article ; Online: Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study.

    Gaily, Eija / Lommi, Markus / Lapatto, Risto / Lehesjoki, Anna-Elina

    Epilepsia

    2016  Volume 57, Issue 10, Page(s) 1594–1601

    Abstract: Objective: Population-based studies on infantile epilepsy syndromes are scarce. Our aim was to provide syndrome-specific data on the incidence and outcome of epilepsy in a population-based cohort of infants with epilepsy onset in the first year.: ... ...

    Abstract Objective: Population-based studies on infantile epilepsy syndromes are scarce. Our aim was to provide syndrome-specific data on the incidence and outcome of epilepsy in a population-based cohort of infants with epilepsy onset in the first year.
    Methods: Included were all infants born in 1997 through 2006 whose epileptic seizures started before 12 months of age and who were residents of the Helsinki University Hospital district at the time of seizure onset. Patients were ascertained from hospital statistics, and all patient charts were reviewed. A reevaluation of the epilepsy syndromes, age at onset, etiology, and outcome at 24 months of age was based on data abstracted from the patient files.
    Results: Inclusion criteria were fulfilled by 158 infants, of whom 92% were followed until age 24 months or death. The incidence of epilepsy in the first year was 124 of 100,000. An epilepsy syndrome recognized by the revised organization of epilepsies by ILAE was identified in 58% of the patients. The most common syndromes were West syndrome (41/100,000) and benign familial or nonfamilial infantile epilepsy (22/100,000). Etiology was structural-metabolic in 35%, genetic in 17%, and unknown in 48%. Early age at onset was associated with structural-metabolic etiology. Seven infants (4.4%) died before age 2 years. One infant with an SCN2A mutation died of sudden unexplained death in epilepsy (SUDEP). At 24 months, 58% of all children included in the cohort were seizure-free, and 46% had both seizure freedom and age-appropriate cognitive development. Age at onset was not associated with outcome when etiology was controlled for.
    Significance: Benign familial and nonfamilial infantile epilepsy appears to be more common than previously suggested, second only to West syndrome. Early age at onset is not an independent risk factor for poor outcome.
    MeSH term(s) Cohort Studies ; Community Health Planning ; Electroencephalography ; Epilepsy/diagnostic imaging ; Epilepsy/epidemiology ; Epilepsy/genetics ; Epilepsy/mortality ; Female ; Humans ; Incidence ; Infant ; Male ; Outcome Assessment (Health Care) ; Risk Factors
    Language English
    Publishing date 2016-10
    Publishing country United States
    Document type Journal Article
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/epi.13514
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    Zs.MO 475: Show issues

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  10. Article ; Online: Cystatin B-deficiency triggers ectopic histone H3 tail cleavage during neurogenesis.

    Daura, Eduard / Tegelberg, Saara / Yoshihara, Masahito / Jackson, Christopher / Simonetti, Francesca / Aksentjeff, Katri / Ezer, Sini / Hakala, Paula / Katayama, Shintaro / Kere, Juha / Lehesjoki, Anna-Elina / Joensuu, Tarja

    Neurobiology of disease

    2021  Volume 156, Page(s) 105418

    Abstract: Cystatin B (CSTB) acts as an inhibitor of cysteine proteases of the cathepsin family and loss-of-function mutations result in human brain diseases with a genotype-phenotype correlation. In the most severe case, CSTB-deficiency disrupts brain development, ...

    Abstract Cystatin B (CSTB) acts as an inhibitor of cysteine proteases of the cathepsin family and loss-of-function mutations result in human brain diseases with a genotype-phenotype correlation. In the most severe case, CSTB-deficiency disrupts brain development, and yet the molecular basis of this mechanism is missing. Here, we establish CSTB as a regulator of chromatin structure during neural stem cell renewal and differentiation. Murine neural precursor cells (NPCs) undergo transient proteolytic cleavage of the N-terminal histone H3 tail by cathepsins B and L upon induction of differentiation into neurons and glia. In contrast, CSTB-deficiency triggers premature H3 tail cleavage in undifferentiated self-renewing NPCs and sustained H3 tail proteolysis in differentiating neural cells. This leads to significant transcriptional changes in NPCs, particularly of nuclear-encoded mitochondrial genes. In turn, these transcriptional alterations impair the enhanced mitochondrial respiration that is induced upon neural stem cell differentiation. Collectively, our findings reveal the basis of epigenetic regulation in the molecular pathogenesis of CSTB deficiency.
    MeSH term(s) Animals ; Cells, Cultured ; Cystatin B/deficiency ; Cystatin B/genetics ; Epigenesis, Genetic/physiology ; Histones/genetics ; Histones/metabolism ; Mice ; Mice, 129 Strain ; Mice, Knockout ; Neural Stem Cells/metabolism ; Neurogenesis/physiology
    Chemical Substances Cstb protein, mouse ; Histones ; Cystatin B (88844-95-5)
    Language English
    Publishing date 2021-06-05
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1211786-9
    ISSN 1095-953X ; 0969-9961
    ISSN (online) 1095-953X
    ISSN 0969-9961
    DOI 10.1016/j.nbd.2021.105418
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