Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Puschmann Andreas) "

Sökning: WFRF:(Puschmann Andreas)

  • Resultat 81-90 av 90
  • Föregående 1...345678[9]
Sortera/gruppera träfflistan
  • Wictorin, Klas, et al. (författare)
  • Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?
  • 2020
  • Ingår i: Neurologia i neurochirurgia polska. - : Termedia Publishing House Ltd.. - 0028-3843. ; 54:1, s. 3-5
  • Tidskriftsartikel (övrigt vetenskapligt)abstract
    • INTRODUCTION: Kaczyńska et al. reported a family with myoclonus-dystonia (M-D) caused by a truncating SGCE mutation, in which two members had epilepsy. Further, patients had mild psychiatric and developmental deficits. CLINICAL REFLECTIONS: Characteristic motor features of M-D include myoclonus, dystonia and tremor. A wide range of additional disease manifestations are known. A few patients with M-D have seizures. CLINICAL IMPLICATIONS: Altered neuronal excitability has been found in the pathogenesis of M-D. This may explain the partial effectiveness of antiepileptics and a lower seizure threshold, and could encourage trials of other membrane stabilisers. Careful clinical observations of seemingly well-known diseases remain important.
  • Wray, Selina, et al. (författare)
  • Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research
  • 2012
  • Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 7:8
  • Tidskriftsartikel (refereegranskat)abstract
    • Our understanding of the molecular mechanisms of many neurological disorders has been greatly enhanced by the discovery of mutations in genes linked to familial forms of these diseases. These have facilitated the generation of cell and animal models that can be used to understand the underlying molecular pathology. Recently, there has been a surge of interest in the use of patient-derived cells, due to the development of induced pluripotent stem cells and their subsequent differentiation into neurons and glia. Access to patient cell lines carrying the relevant mutations is a limiting factor for many centres wishing to pursue this research. We have therefore generated an open-access collection of fibroblast lines from patients carrying mutations linked to neurological disease. These cell lines have been deposited in the National Institute for Neurological Disorders and Stroke (NINDS) Repository at the Coriell Institute for Medical Research and can be requested by any research group for use in in vitro disease modelling. There are currently 71 mutation-defined cell lines available for request from a wide range of neurological disorders and this collection will be continually expanded. This represents a significant resource that will advance the use of patient cells as disease models by the scientific community.
  • Ygland, Emil, et al. (författare)
  • Slowly progressive dementia caused by MAPT R406W mutations : longitudinal report on a new kindred and systematic review
  • 2018
  • Ingår i: Alzheimer's Research & Therapy. - : BioMed Central. - 1758-9193. ; 10
  • Forskningsöversikt (refereegranskat)abstract
    • Background: The MAPT c.1216C > T (p.Arg406Trp; R406W) mutation is a known cause of frontotemporal dementia with Parkinsonism linked to chromosome 17 tau with Alzheimer's disease-like clinical features. Methods: We compiled clinical data from a new Swedish kindred with R406W mutation. Seven family members were followed longitudinally for up to 22 years. Radiological examinations were performed in six family members and neuropathological examinations in three. We systematically reviewed the literature and compiled clinical, radiological, and neuropathological data on 63 previously described R406W heterozygotes and 3 homozygotes. Results: For all cases combined, the median age of onset was 56 years and the median disease duration was 13 years. Memory impairment was the most frequent symptom, behavioral disturbance and language impairment were less common, and Parkinsonism was rare. Disease progression was most often slow. The most frequent clinical diagnosis was Alzheimer's disease. R406W homozygotes had an earlier age at onset and a higher frequency of behavioral symptoms and Parkinsonism than heterozygotes. In the new Swedish kindred, a consistent imaging finding was ventromedial temporal lobe atrophy, which was evident also in early disease stages as a widening of the collateral sulcus with ensuing atrophy of the parahippocampal gyrus. Unlike previously published R406W carriers, all three autopsied patients from the novel family showed neuropathological similarities with progressive supranuclear palsy, with predominant four-repeat (exon 10+) tau isoform (4R) tauopathy and neurofibrillary tangles accentuated in the basal-medial temporal lobe. Amyloid-beta pathology was absent. Conclusions: Dominance of 4R over three-repeat (exon 10-) tau isoforms contrasts with earlier reports of R406W patients and was not sufficiently explained by the presence of H1/H2 haplotypes in two of the autopsied patients. R406W patients often show a long course of disease with marked memory deficits. Both our neuropathological results and our imaging findings revealed that the ventromedial temporal lobes were extensively affected in the disease. We suggest that this area may represent the point of origin of tau deposition in this disease with relatively isolated tauopathy.
  • Ygland Rödström, Emil, et al. (författare)
  • Clinical classification systems and long-term outcome in mid- and late-stage Parkinson’s disease
  • 2021
  • Ingår i: npj Parkinson's Disease. - : Springer Nature. - 2373-8057. ; 7:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Parkinson’s disease shows a heterogeneous course and different clinical subtyping systems have been described. To compare the capabilities of two clinical classification systems, motor-phenotypes, and a simplified clinical motor-nonmotor subtyping system, a cohort was included at mean 7.9 ± 5.3 years of disease duration, classified using both clinical systems, and reexamined and reclassified at the end of an observation period. Time-points were retrospectively extracted for five major disease milestones: death, dementia, Hoehn and Yahr stage 5, nursing home living, and walking aid use. Eighty-nine patients were observed for 8.1 ± 2.7 years after inclusion. Dementia developed in 32.9% of the patients and 36.0–67.4% reached the other milestones. Motor-phenotypes were unable to stratify risks during this period, but the worst compared with the more favorable groups in the motor-nonmotor system conveyed hazard ratios between 2.6 and 63.6 for all milestones. A clear separation of risks for dying, living at the nursing home, and reaching motor end-stage was also shown when using only postural instability and gait disorder symptoms, without weighing them against the severity of the tremor. At reexamination, 29.4% and 64.7% of patients had changed classification groups in the motor-phenotype and motor-nonmotor systems, respectively. The motor-nonmotor system thus stratified risks of reaching crucial outcomes in mid–late Parkinson’s disease far better than the well-studied motor-phenotypes. Removing the tremor aspect of motor-phenotypes clearly improved this system, however. Classifications in both systems became unstable over time. The simplification of the motor-nonmotor system was easily applicable and showed potential as a prognostic marker during a large part of Parkinson’s disease.
  • Ygland Rödström, Emil, et al. (författare)
  • Serum Neurofilament Light Chain as a Marker of Progression in Parkinson's Disease : Long-Term Observation and Implications of Clinical Subtypes
  • 2022
  • Ingår i: Journal of Parkinson's Disease. - : IOS Press. - 1877-7171. ; 12:2, s. 571-584
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Biochemical and clinical biomarkers correlate with progression rate and disease severity in Parkinson's disease (PD) but are not sufficiently studied in late PD. Objective: To examine how serum neurofilament light chain (S-NfL) alone or combined with clinical classifications predicts PD outcome in later disease stages. Methods: Eighty-five patients with 7.9±5.1 years of PD duration were included in an observational cohort. Clinical scores were obtained at two separate examinations 8.2±2.0 years apart. S-NfL levels were determined with single molecule array (SiMoA). Five predefined disease progression milestones were assessed. After affirming combination potential of S-NfL and either of two clinical classifications, three combined models were constructed based on these factors and age at onset in different combinations. Results: S-NfL levels showed significant hazard ratios for four out of five disease progression milestones: walking-aid usage (HR 3.5; 95% CI 1.4-8.5), nursing home living (5.1; 2.1-12.5), motor end-stage (6.2; 2.1-17.8), and death (4.1; 1.7-9.7). Higher S-NfL levels were associated with lower ability in activities of daily living and poorer cognition at baseline and/or at follow-up. Combined models showed significantly improved area under receiver operating characteristic curves (0.77-0.91) compared to S-NfL levels alone (0.68-0.71) for predicting the five disease milestones. Conclusion: S-NfL levels stratified patients according to their likelihood to reach clinically relevant progression milestones during this long-term observational study. S-NfL alone reflected motor and social outcomes in later stages of PD. Combining S-NfL with clinical factors was possible and exploratory combined models improved prognostic accuracy.
Skapa referenser, mejla, bekava och länka
  • Resultat 81-90 av 90
  • Föregående 1...345678[9]
Typ av publikation
tidskriftsartikel (72)
konferensbidrag (11)
forskningsöversikt (3)
bokkapitel (3)
doktorsavhandling (1)
Typ av innehåll
refereegranskat (83)
övrigt vetenskapligt (5)
populärvet., debatt m.m. (2)
Puschmann, Andreas (89)
Wszolek, Zbigniew K. (31)
Ross, Owen A. (19)
Nilsson, Christer (12)
Opala, Grzegorz (11)
Uitti, Ryan J (10)
visa fler...
Lynch, Timothy (10)
Hansson, Oskar (8)
Englund, Elisabet (8)
Widner, Håkan (8)
Silburn, Peter A. (8)
Mellick, George D. (8)
Wirdefeldt, Karin (8)
Aasly, Jan O. (8)
Annesi, Grazia (8)
Jasinska-Myga, Barba ... (8)
Maraganore, Demetriu ... (8)
Ilinca, Andreea (7)
Dickson, Dennis W (7)
Brighina, Laura (7)
Brice, Alexis (7)
Soto-Ortolaza, Alexa ... (7)
Sharma, Manu (7)
Van Broeckhoven, Chr ... (6)
Lesage, Suzanne (6)
Elbaz, Alexis (6)
Hadjigeorgiou, Georg ... (6)
Quattrone, Aldo (6)
Nilsson, Karin (5)
Swanberg, Maria (5)
Soller, Maria (5)
Hattori, Nobutaka (5)
Theuns, Jessie (5)
Klein, Christine (5)
Wszolek, Z K (5)
Aasly, Jan (5)
Bozi, Maria (5)
Ferrarese, Carlo (5)
van Westen, Danielle (4)
Kruger, R (4)
Fiesel, Fabienne C. (4)
Springer, Wolfdieter (4)
Chartier-Harlin, Mar ... (4)
Markopoulou, Katerin ... (4)
Tan, Eng-King (4)
Ygland Rödström, Emi ... (4)
Rudzinska, Monika (4)
Gibson, J. Mark (4)
Stefanis, Leonidas (4)
visa färre...
Lunds universitet (89)
Karolinska Institutet (11)
Göteborgs universitet (5)
Linköpings universitet (2)
Umeå universitet (1)
Uppsala universitet (1)
visa fler...
Örebro universitet (1)
visa färre...
Engelska (89)
Svenska (1)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (88)
Naturvetenskap (2)


Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy