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Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

Peer-reviewed
DOI
10.1007/s00415-014-7553-y
Mancini, Cecilia;Nassani, Stefano;Guo, Yiran;Chen, Yulan;Giorgio, Elisa;Brussino, Alessandro;Di Greg...
JOURNAL OF NEUROLOGY2015

Somatosensory evoked fields from SI in juvenile neuronal ceroid lipofuscinosis compared with healthy children and adolescents,

Sipilä, L.; Heikkilä, E.; Autti, T.; Sainio, K.; Huttunen, J.; Aronen, H.; Korvenoja, A.; Ilmoniemi,...
-1996

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

Peer-reviewed
DOI
10.1684/epd.2017.0911
Ozkara, Cigdem; Gunduz, Aysegul; Coskun, Tulin; Alpaslan, Bengi Gul; Zeydan, Burcu; Delil, Sakir; Mu...
Epileptic disorders2017

Molecular interactions of neuronal ceroid lipofuscinosis protein CLN3

Uusi-Rauva, Kristiina
Tutkimus / Terveyden ja hyvinvoinnin laitos2012

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins

Peer-reviewed
DOI
10.1016/j.bbadis.2013.01.019
Kollmann, Katrin; Uusi-Rauva, Kristiina; Scifo, Enzo; Tyynelä, Jaana; Jalanko, Anu; Braulke, Thomas
Biochimica et biophysica acta: molecular basis of disease2013

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5

Peer-reviewed
Open access
DOI
10.1111/dmcn.13473
Simonati, Alessandro; Williams, Ruth E.; Nardocci, Nardo; Laine, Minna; Battini, Roberta; Schulz, An...
Developmental medicine and child neurology2017

Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice

Peer-reviewed
Open access
DOI
10.1242/dmm.010140
Blom, Tea; Schmiedt, Mia-Lisa; Wong, Andrew M.; Kyttälä, Aija; Soronen, Jarkko; Jauhiainen, Matti; T...
Disease Models & Mechanisms2013

Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis

Peer-reviewed
Open access
DOI
10.3174/ajnr.A5687
Roine, U.; Roine, T. J.; Hakkarainen, A.; Tokola, A.; Balk, M. H.; Mannerkoski, M.; Åberg, L. E.; Lö...
American journal of neuroradiology2018

Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2

Peer-reviewed
Open access
DOI
10.1055/a-2510-5592
Priglinger, Claudia S.; Courage, Carolina; Lotz-Havla, Amelie S.; Gerhardt, Maximilian; Ehrt, Oliver...
Neuropediatrics2025

Stem cells in neurodegenerative diseases: focus on Alzheimer's Disease and Neuronal Ceroid Lipofuscinosis

Savchenko Ekaterina
Publications of the University of Eastern Finland. Dissertations in Health Sciences2015

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

Peer-reviewed
DOI
10.1007/s00415-014-7553-y
2015

Somatosensory evoked fields from SI in juvenile neuronal ceroid lipofuscinosis compared with healthy children and adolescents,

1996

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

Peer-reviewed
DOI
10.1684/epd.2017.0911
2017

Molecular interactions of neuronal ceroid lipofuscinosis protein CLN3

2012

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins

Peer-reviewed
DOI
10.1016/j.bbadis.2013.01.019
2013

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5

Peer-reviewed
Open access
DOI
10.1111/dmcn.13473
2017

Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice

Peer-reviewed
Open access
DOI
10.1242/dmm.010140
2013

Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis

Peer-reviewed
Open access
DOI
10.3174/ajnr.A5687
2018

Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2

Peer-reviewed
Open access
DOI
10.1055/a-2510-5592
2025

Stem cells in neurodegenerative diseases: focus on Alzheimer's Disease and Neuronal Ceroid Lipofuscinosis

2015