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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 4
1978 1
1984 2
1986 2
1988 2
1989 1
1990 1
1991 1
1993 1
1994 2
1995 2
1997 1
1998 2
1999 2
2000 2
2001 8
2002 5
2003 3
2004 1
2005 5
2006 2
2008 4
2009 4
2010 4
2011 4
2012 4
2013 8
2014 10
2015 4
2016 7
2017 6
2018 4
2019 9
2020 8
2021 13
2022 1
2023 7
2024 5

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132 results

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Page 1
Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities.
Lehwald LM, Pappa R, Steward S, de Los Reyes E. Lehwald LM, et al. Pediatr Neurol. 2016 Jun;59:30-5. doi: 10.1016/j.pediatrneurol.2016.02.009. Epub 2016 Mar 3. Pediatr Neurol. 2016. PMID: 27105763 Clinical Trial.
PURPOSE: The aims of this study were to evaluate sleep difficulties in children with neuronal ceroid lipofuscinosis and to determine the association between the sleep difficulties and the onset of seizures and loss of vision. ...Restless leg syndrome symptoms …
PURPOSE: The aims of this study were to evaluate sleep difficulties in children with neuronal ceroid lipofuscinosis and …
Cerliponase Alfa: First Global Approval.
Markham A. Markham A. Drugs. 2017 Jul;77(11):1247-1249. doi: 10.1007/s40265-017-0771-8. Drugs. 2017. PMID: 28589525 Review.
Cerliponase alfa (Brineura) is a recombinant human tripeptidyl peptidase-1 (TPP1) being developed by BioMarin Pharmaceutical Inc. for use in patients with neuronal ceroid lipofuscinosis type 2 (CLN2), a paediatric neurodegenerative disease caused by a deficie …
Cerliponase alfa (Brineura) is a recombinant human tripeptidyl peptidase-1 (TPP1) being developed by BioMarin Pharmaceutical Inc. for use in …
The CLN3 gene and protein: What we know.
Mirza M, Vainshtein A, DiRonza A, Chandrachud U, Haslett LJ, Palmieri M, Storch S, Groh J, Dobzinski N, Napolitano G, Schmidtke C, Kerkovich DM. Mirza M, et al. Mol Genet Genomic Med. 2019 Dec;7(12):e859. doi: 10.1002/mgg3.859. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31568712 Free PMC article. Review.
METHODS: BBDF compiled all of the available CLN3 gene and protein data from biological databases, repositories of federally and privately funded projects, patent and trademark offices, science and technology journals, industrial drug and pipeline reports as well as clinical …
METHODS: BBDF compiled all of the available CLN3 gene and protein data from biological databases, repositories of federally and privately fu …
Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses.
Kohlschütter A, Schulz A, Bartsch U, Storch S. Kohlschütter A, et al. CNS Drugs. 2019 Apr;33(4):315-325. doi: 10.1007/s40263-019-00620-8. CNS Drugs. 2019. PMID: 30877620 Free PMC article. Review.
While various therapeutic strategies are currently being explored as treatment options for these fatal disorders, there is presently only one clinically approved drug that has been shown to effectively attenuate the progression of a specific form of neuronal ceroid …
While various therapeutic strategies are currently being explored as treatment options for these fatal disorders, there is presently only on …
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).
Kohlschütter A, Schulz A. Kohlschütter A, et al. Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:682-8. Pediatr Endocrinol Rev. 2016. PMID: 27491216 Review.
Safety of the intrathecal delivery, pharmacokinetics, and tissue distribution of the administered enzyme studied in non-human primates were encouraging, and a phase I/II clinical trial for intraventricular ERT in CLN2 patients is ongoing. ...Although there were no s …
Safety of the intrathecal delivery, pharmacokinetics, and tissue distribution of the administered enzyme studied in non-human primates were …
Cynomolgus macaque model of neuronal ceroid lipofuscinosis type 2 disease.
Munesue Y, Ageyama N, Kimura N, Takahashi I, Nakayama S, Okabayashi S, Katakai Y, Koie H, Yagami KI, Ishii K, Tamaoka A, Yasutomi Y, Shimozawa N. Munesue Y, et al. Exp Neurol. 2023 May;363:114381. doi: 10.1016/j.expneurol.2023.114381. Epub 2023 Mar 12. Exp Neurol. 2023. PMID: 36918063
We report the discovery of cynomolgus macaques carrying the CLN2/TPP1 variant and our analysis of whether the macaques could be a new non-human primate model for NCL type 2 (CLN2) disease. Three cynomolgus macaques presented progressive neuronal clinical symptoms such as l …
We report the discovery of cynomolgus macaques carrying the CLN2/TPP1 variant and our analysis of whether the macaques could be a new non-hu …
Review of Cerliponase Alfa: Recombinant Human Enzyme Replacement Therapy for Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2.
Lewis G, Morrill AM, Conway-Allen SL, Kim B. Lewis G, et al. J Child Neurol. 2020 Apr;35(5):348-353. doi: 10.1177/0883073819895694. Epub 2019 Dec 29. J Child Neurol. 2020. PMID: 31884868 Review.
A phase 1/2 trial established the efficacy and safety of cerliponase alfa for treatment of neuronal ceroid lipofuscinosis type 2. ...Cerliponase alfa is effective in delaying the progression of motor language decline for patients with neuronal …
A phase 1/2 trial established the efficacy and safety of cerliponase alfa for treatment of neuronal ceroid lipofusci …
Feasibility of gene therapy for late neuronal ceroid lipofuscinosis.
Sondhi D, Hackett NR, Apblett RL, Kaminsky SM, Pergolizzi RG, Crystal RG. Sondhi D, et al. Arch Neurol. 2001 Nov;58(11):1793-8. doi: 10.1001/archneur.58.11.1793. Arch Neurol. 2001. PMID: 11708986 Review.
Late infantile neuronal ceroid lipofuscinosis is a progressive childhood neurodegenerative disorder characterized by intracellular accumulation of autofluorescent material resembling lipofuscin in neuronal cells. This report summarizes the new therapies under …
Late infantile neuronal ceroid lipofuscinosis is a progressive childhood neurodegenerative disorder characterized by in …
Juvenile NCL (CLN3 Disease): Emerging Disease-Modifying Therapeutic Strategies.
Augustine EF, Mink JW. Augustine EF, et al. Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:655-62. Pediatr Endocrinol Rev. 2016. PMID: 27491213 Review.
Abstract Juvenile Neuronal Ceroid Lipofuscinosis is a lysosomal storage disease characterized pathologically by intracellular accumulation of autofluorescent storage material and neurodegeneration. ...Yet, recent preclinical discovery has established new ther …
Abstract Juvenile Neuronal Ceroid Lipofuscinosis is a lysosomal storage disease characterized pathologically by intrace …
132 results