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Quoted phrase not found in phrase index: "Neuronal ceroid lipofuscinosis 13"
Page 1
Therapeutic landscape for Batten disease: current treatments and future prospects.
Johnson TB, Cain JT, White KA, Ramirez-Montealegre D, Pearce DA, Weimer JM. Johnson TB, et al. Nat Rev Neurol. 2019 Mar;15(3):161-178. doi: 10.1038/s41582-019-0138-8. Nat Rev Neurol. 2019. PMID: 30783219 Free PMC article. Review.
Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of devastating lysosomal storage disorders that collectively represent the most common inherited paediatric neurodegenerative disorders worldwide. Batten disease can result fro …
Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of devastating lysosomal storage dis …
Altered protein secretion in Batten disease.
Huber RJ. Huber RJ. Dis Model Mech. 2021 Dec 1;14(12):dmm049152. doi: 10.1242/dmm.049152. Epub 2021 Dec 6. Dis Model Mech. 2021. PMID: 34870700 Free PMC article. Review.
The neuronal ceroid lipofuscinoses (NCLs), collectively known as Batten disease, are a group of neurological diseases that affect all ages and ethnicities worldwide. There are 13 different subtypes of NCL, each caused by a mutation in a distinct gene. …
The neuronal ceroid lipofuscinoses (NCLs), collectively known as Batten disease, are a group of neurological diseases t …
Experimental gene therapies for the NCLs.
Liu W, Kleine-Holthaus SM, Herranz-Martin S, Aristorena M, Mole SE, Smith AJ, Ali RR, Rahim AA. Liu W, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165772. doi: 10.1016/j.bbadis.2020.165772. Epub 2020 Mar 24. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32220628 Free article. Review.
The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of rare monogenic neurodegenerative diseases predominantly affecting children. All NCLs are lethal and incurable and only one has an approved treatment available. To date, …
The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of rare monogenic neurodegenerativ …
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
Cellular models of Batten disease.
Minnis CJ, Thornton CD, FitzPatrick LM, McKay TR. Minnis CJ, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165559. doi: 10.1016/j.bbadis.2019.165559. Epub 2019 Oct 23. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31655107 Free PMC article. Review.
The Neuronal Ceroid Lipofuscinoses (NCL), otherwise known as Batten disease, are a group of neurodegenerative diseases caused by mutations in 13 known genes. ...
The Neuronal Ceroid Lipofuscinoses (NCL), otherwise known as Batten disease, are a group of neurodegenerative diseases …
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 …
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.
Mole SE, Anderson G, Band HA, Berkovic SF, Cooper JD, Kleine Holthaus SM, McKay TR, Medina DL, Rahim AA, Schulz A, Smith AJ. Mole SE, et al. Lancet Neurol. 2019 Jan;18(1):107-116. doi: 10.1016/S1474-4422(18)30368-5. Epub 2018 Nov 21. Lancet Neurol. 2019. PMID: 30470609 Review.
Diagnosis has improved with the use of comprehensive DNA-based tests that simultaneously screen for many genes. The identification of disease-causing mutations in 13 genes provides a basis for understanding the molecular mechanisms underlying neuronal ceroid
Diagnosis has improved with the use of comprehensive DNA-based tests that simultaneously screen for many genes. The identification of diseas …
Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses.
Mukherjee AB, Appu AP, Sadhukhan T, Casey S, Mondal A, Zhang Z, Bagh MB. Mukherjee AB, et al. Mol Neurodegener. 2019 Jan 16;14(1):4. doi: 10.1186/s13024-018-0300-6. Mol Neurodegener. 2019. PMID: 30651094 Free PMC article. Review.
Neuronal Ceroid Lipofuscinoses (NCLs), commonly known as Batten disease, constitute a group of the most prevalent neurodegenerative lysosomal storage disorders (LSDs). Mutations in at least 13 different genes (called CLNs) cause various forms of NCLs.
Neuronal Ceroid Lipofuscinoses (NCLs), commonly known as Batten disease, constitute a group of the most prevalent neuro
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
Badilla-Porras R, Echeverri-McCandless A, Weimer JM, Ulate-Campos A, Soto-Rodríguez A, Gutiérrez-Mata A, Hernández-Con L, Bogantes-Ledezma S, Balmaceda-Meza A, Brudvig J, Sanabria-Castro A. Badilla-Porras R, et al. Orphanet J Rare Dis. 2022 Jan 10;17(1):13. doi: 10.1186/s13023-021-02162-z. Orphanet J Rare Dis. 2022. PMID: 35012600 Free PMC article.
BACKGROUND: Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent material (known as l …
BACKGROUND: Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous …
The conserved cellular roles of CLN proteins: Novel insights from Dictyostelium discoideum.
Remtulla AAN, Huber RJ. Remtulla AAN, et al. Eur J Cell Biol. 2023 Jun;102(2):151305. doi: 10.1016/j.ejcb.2023.151305. Epub 2023 Mar 9. Eur J Cell Biol. 2023. PMID: 36917916 Free article. Review.
The neuronal ceroid lipofuscinoses (NCLs), collectively referred to as Batten disease, are a group of fatal neurodegenerative disorders that primarily affect children. The etiology of Batten disease is linked to mutations in 13 genes that encode distin …
The neuronal ceroid lipofuscinoses (NCLs), collectively referred to as Batten disease, are a group of fatal neurodegene …
77 results