Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

Autor: Mario Cortina-Borja, Danielle te Vruchte, Eugen Mengel, Yasmin Amraoui, Jackie Imrie, Simon A. Jones, Christine i Dali, Paul Fineran, Thomas Kirkegaard, Heiko Runz, Robin Lachmann, Tatiana Bremova-Ertl, Michael Strupp, Frances M. Platt

Publikováno v: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-16 (2018)

Abstract Background Niemann-Pick disease type C (NPC) is a lysosomal storage disease with a heterogeneous neurodegenerative clinical course. Multiple therapies are in clinical trials and inclusion criteria are currently mainly based on age and neurol

Externí odkaz: https://doaj.org/article/5ac3fe3f7d0c47d295617be6933c0b47

Evaluation of the long term effect of arimoclomol in NPC

Autor: Marc Patterson, Christine i Dali, Eugen Mengel

Publikováno v: Molecular Genetics and Metabolism. 138:107260

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::61e61dcbf10eb1c6c18e2832037f7c47
https://doi.org/10.1016/j.ymgme.2022.107260

Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia

Autor: Poul Erik Andersen, Christine I Dali, Pernille Mathiesen Tørring, Anette Drøhse Kjeldsen, Klaus Brusgaard, Mathilde Faurholdt Lauridsen, Lilian Bomme Ousager

Publikováno v: Clinical Case Reports
Tørring, P M, Lauridsen, M F, I Dali, C, Andersen, P E, Ousager, L B, Brusgaard, K & Kjeldsen, A D 2017, ' Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia ', Clinical Case Reports, vol. 5, no. 6, pp. 805–808 . https://doi.org/10.1002/ccr3.785

Key Clinical Message In case of a cerebral abscess without known cause, Pulmonary arteriovenous malformations (PAVM) screening should be performed. If PAVM(s) is identified, Hereditary hemorrhagic telangiectasia (HHT) is very likely and should always

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba3eb115b16386300cbf2824fc1f025f
http://europepmc.org/articles/PMC5457996

A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia

Autor: Lisbeth Birk Møller, Christine I Dali, Suzanne Granhøj Lindquist, Lisbeth Marner, Lena E. Hjermind, Jørgen E. Nielsen, Erik-Jan Kamsteeg

Publikováno v: Cerebellum, 16, 1, pp. 268-271
Cerebellum, 16, 268-271

Item does not contain fulltext Spinocerebellar ataxia type 11 (SCA11) is rare and has previously been described in four families worldwide. We report a Danish family with onset of symptoms in early childhood and affected family members in two generat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df8191cf3683453651c7dc49e799d48d
https://hdl.handle.net/2066/169903

Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective

Autor: Eugen Mengel, Marc C. Patterson, Michael Chladek, Christina Guldberg, Christine í Dali, Tara Symonds, Lucy Lloyd-Price, Toni Mathieson, Joslyn Crowe, Claire Burbridge

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)

Abstract Background Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy. Since there is little qualitative research from the perspe

Externí odkaz: https://doaj.org/article/04afd113d8674f91a5645ce4861fc91f