Displaying results 1 - 10 / 569
results / page
What publication information is included in the service?
Publication name
Authors
Publication channel
Year

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

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

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

Native and Complexed IGF-1: Biodistribution and Pharmacokinetics in Infantile Neuronal Ceroid Lipofuscinosis

Peer-reviewed
Open access
Huhtala Tuulia, Rytkönen Jussi, Jalanko Anu, Kaasalainen Martti, Salonen Jarno, Riikonen Raili, Närv...
Journal of drug delivery2012

Molecular interactions of neuronal ceroid lipofuscinosis protein CLN3

Uusi-Rauva, Kristiina
Tutkimus / Terveyden ja hyvinvoinnin laitos2012

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

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

Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease

Peer-reviewed
DOI
10.1093/hmg/ddx074
M Segal-Salto; K Hansson; T Sapir; A Kaplan; T Levy; M Schweizer; M Frotscher; Peter James; O Reiner
Human Molecular Genetics2017

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

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

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

1996

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

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

Native and Complexed IGF-1: Biodistribution and Pharmacokinetics in Infantile Neuronal Ceroid Lipofuscinosis

Peer-reviewed
Open access
2012

Molecular interactions of neuronal ceroid lipofuscinosis protein CLN3

2012

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

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

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins

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

Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease

Peer-reviewed
DOI
10.1093/hmg/ddx074
2017

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

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

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

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