• Publications
  • Influence
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
TLDR
Immunohistochemical analysis using two exon-specific antibodies directed to the M-line region of titin demonstrated the specific loss of carboxy-terminal titin epitopes in the TMD muscle samples that were studied, thus implicating a functional defect of theM-line titin in the genesis of the T MD disease phenotype. Expand
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
TLDR
The skeletal malformations in RAPADILINO and RTS patients as well as the high osteosarcoma risk in RTS propose a special role for RECQL4 in bone development, which remains unknown, but based on the domain homology it possesses ATP-dependent DNA helicase activity. Expand
Effects of media exposure on adolescents traumatized in a school shooting.
TLDR
Being interviewed was associated with higher scores on the Impact of Event Scale, but posttraumatic symptoms did not differ between those who refused to be interviewed and those not approached by reporters. Expand
An evaluation of ICD-11 posttraumatic stress disorder criteria in two samples of adolescents and young adults exposed to mass shootings: factor analysis and comparisons to ICD-10 and DSM-IV
TLDR
The findings suggest that the two-Factor model of ICD-11 PTSD is preferable to the three-factor model, and there were some differences in the clinical characteristics of the PTSD cases identified by I CDD-11, when compared to I CD-10 and DSM-IV. Expand
Zaspopathy in a large classic late-onset distal myopathy family.
TLDR
The disorder in one of the well-characterized autosomal dominant distal myopathy families, the Markesbery et al. family, is caused by ZASP mutation A165V, and haplotype studies in this family and in five other unrelated families with European ancestry share common markers at the locus suggesting the existence of a founder mutation. Expand
A controlled follow-up study of adolescents exposed to a school shooting – Psychological consequences after four months
TLDR
The observed risk and protective factors were similar to earlier studies and follow-up will be essential in identifying factors predicting persisting trauma-related symptoms in adolescence. Expand
AUDIT and AUDIT-C as screening instruments for alcohol problem use in adolescents.
TLDR
Comparisons of ROC between the AUDIT and AUDIT-C pairs indicated a slightly better test performance by AUDIT for the whole sample and in a proportion of the subsamples, and results for the cut-off scores for the early detection of alcohol problem use in adolescents are ≥5 for AUDIT, and ≥3 for AUDit-C. Expand
Adverse childhood experiences as risk factors for serious mental disorders and inpatient hospitalization among adolescents.
TLDR
It is important to identify the most prevalent and owerful childhood psychosocial risk factors for severe mental health disorders among high-risk adolescents to diminsh personal agony, prevent the aggravation of psychiatric problems and reduce hospitalization and high health care costs. Expand
Assignment of the tibial muscular dystrophy locus to chromosome 2q31.
TLDR
The disease locus that was found represents a novel muscular dystrophy locus, providing evidence for the involvement of one additional gene in the distal myopathy group of muscle disorders. Expand
The first European family with tibial muscular dystrophy outside the Finnish population
TLDR
The results of this family without Finnish ancestors show that TMD exists outside the Finnish population, and all five clinically affected patients segregated a specific haplotype for the locus, whereas two unaffected patients had different haplotype. Expand
...
1
2
3
4
5
...