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Quoted phrase not found in phrase index: "Neuronal ceroid lipofuscinosis 13"
Page 1
Pharmacological approaches to tackle NCLs.
Kauss V, Dambrova M, Medina DL. Kauss V, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165553. doi: 10.1016/j.bbadis.2019.165553. Epub 2019 Sep 12. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31521819 Free article. Review.
Neuronal ceroid lipofuscinoses, also collectively known as Batten disease, are a group of rare monogenic disorders caused by mutations in at least 13 different genes. ...Although the identification of disease-causing genes provides an important step fo …
Neuronal ceroid lipofuscinoses, also collectively known as Batten disease, are a group of rare monogenic disorders caus …
Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.
Naseri N, Sharma M, Velinov M. Naseri N, et al. Clin Genet. 2021 Jan;99(1):111-118. doi: 10.1111/cge.13829. Epub 2020 Aug 26. Clin Genet. 2021. PMID: 32783189 Free PMC article. Review.
The neuronal ceroid lipofuscinoses (NCLs) are at least 13 distinct progressive neurodegenerative disorders unified by the accumulation of lysosomal auto-fluorescent material called lipofuscin. ...
The neuronal ceroid lipofuscinoses (NCLs) are at least 13 distinct progressive neurodegenerative disorders unifi …
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.
The neuronal ceroid lipofuscinoses comprise a group of neurodegenerative lysosomal storage disorders caused by mutations in at least 13 different genes and primarily affect the brain and the retina of children or young adults. ...An important aspect of …
The neuronal ceroid lipofuscinoses comprise a group of neurodegenerative lysosomal storage disorders caused by mutation …
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
Neuronal ceroid lipofuscinoses (NCLs) are autosomal-recessive fatal neurodegenerative diseases that occur in children and young adults, with symptoms including ataxia, seizures and visual impairment. We report the discovery of cynomolgus macaques carrying the …
Neuronal ceroid lipofuscinoses (NCLs) are autosomal-recessive fatal neurodegenerative diseases that occur in children a …
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 …
Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study.
Schulz A, Specchio N, de Los Reyes E, Gissen P, Nickel M, Trivisano M, Aylward SC, Chakrapani A, Schwering C, Wibbeler E, Westermann LM, Ballon DJ, Dyke JP, Cherukuri A, Bondade S, Slasor P, Cohen Pfeffer J. Schulz A, et al. Lancet Neurol. 2024 Jan;23(1):60-70. doi: 10.1016/S1474-4422(23)00384-8. Lancet Neurol. 2024. PMID: 38101904
BACKGROUND: Cerliponase alfa is a recombinant human tripeptidyl peptidase 1 (TPP1) enzyme replacement therapy for the treatment of neuronal ceroid lipofuscinosis type 2 (CLN2 disease), which is caused by mutations in the TPP1 gene. ...FINDINGS: Between Sept …
BACKGROUND: Cerliponase alfa is a recombinant human tripeptidyl peptidase 1 (TPP1) enzyme replacement therapy for the treatment of neuron …
Assessment of Safety and Biodistribution of AAVrh.10hCLN2 Following Intracisternal Administration in Nonhuman Primates for the Treatment of CLN2 Batten Disease.
De BP, Rosenberg JB, Selvan N, Wilson I, Yusufzai N, Greco A, Kaminsky SM, Heier LA, Ricart Arbona RJ, Miranda IC, Monette S, Nair A, Khanna R, Crystal RG, Sondhi D. De BP, et al. Hum Gene Ther. 2023 Sep;34(17-18):905-916. doi: 10.1089/hum.2023.067. Hum Gene Ther. 2023. PMID: 37624739
CLN2 disease is a fatal, childhood autosomal recessive disorder caused by mutations in ceroid lipofuscinosis type 2 (CLN2) gene, encoding tripeptidyl peptidase 1 (TPP-1). ...Collectively, these data indicate that AAVrh.10hCLN2 delivered by intracisternal route is sa …
CLN2 disease is a fatal, childhood autosomal recessive disorder caused by mutations in ceroid lipofuscinosis type 2 (CLN2) gen …
Editorial commentary on "Gait phenotype in Batten disease: A marker of disease progression".
Abreu NJ, de Los Reyes EC. Abreu NJ, et al. Eur J Paediatr Neurol. 2021 Nov;35:A2. doi: 10.1016/j.ejpn.2021.11.007. Epub 2021 Nov 17. Eur J Paediatr Neurol. 2021. PMID: 34844861
Batten disease, also known as neuronal ceroid lipofuscinosis, refers to a diverse group of 13 hereditary inborn errors of metabolism resulting in the abnormal accumulation of autofluorescent storage material in lysosomes leading to neurodegeneration, t …
Batten disease, also known as neuronal ceroid lipofuscinosis, refers to a diverse group of 13 hereditary inborn …
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.
Wibbeler E, Wang R, Reyes EL, Specchio N, Gissen P, Guelbert N, Nickel M, Schwering C, Lehwald L, Trivisano M, Lee L, Amato G, Cohen-Pfeffer J, Shediac R, Leal-Pardinas F, Schulz A. Wibbeler E, et al. J Child Neurol. 2021 May;36(6):468-474. doi: 10.1177/0883073820977997. Epub 2020 Dec 23. J Child Neurol. 2021. PMID: 33356800 Free PMC article.
BACKGROUND: The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor decline. …
BACKGROUND: The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between a …
32 results