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1989 3
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1997 2
1998 1
1999 4
2000 5
2001 6
2003 1
2004 2
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2013 5
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68 results

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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. ...Pathologically, Batten dis …
Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of devastating lysosomal storage dis …
The roles of HSP40/DNAJ protein family in neurodegenerative diseases.
He Y, Wang Z. He Y, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Nov 25;51(5):640-646. doi: 10.3724/zdxbyxb-2021-0406. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 36581576 Free PMC article. Review. English.
It is well perceived that protein homeostasis is vital for neuronal health. DNAJ family proteins have been linked to the occurrence and progression of neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, Huntington's disease, spinocerebellar ataxia, …
It is well perceived that protein homeostasis is vital for neuronal health. DNAJ family proteins have been linked to the occurrence a …
The neuronal ceroid-lipofuscinoses.
Bennett MJ, Rakheja D. Bennett MJ, et al. Dev Disabil Res Rev. 2013;17(3):254-9. doi: 10.1002/ddrr.1118. Dev Disabil Res Rev. 2013. PMID: 23798013 Review.
The neuronal ceroid-lipofuscinoses (NCL's, Batten disease) represent a group of severe neurodegenerative diseases, which mostly present in childhood. ...Sequencing of other NCL genes may be required to establish a diagnosis when the common forms are ruled out …
The neuronal ceroid-lipofuscinoses (NCL's, Batten disease) represent a group of severe neurodegenerative diseases, whic …
Progressive Myoclonus Epilepsies.
Kälviäinen R. Kälviäinen R. Semin Neurol. 2015 Jun;35(3):293-9. doi: 10.1055/s-0035-1552620. Epub 2015 Jun 10. Semin Neurol. 2015. PMID: 26060909 Review.
The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers [MERRF], and type 1 and 2 sialidoses) have been identified. The prognosi …
The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid …
Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease).
Ouseph MM, Kleinman ME, Wang QJ. Ouseph MM, et al. Ann N Y Acad Sci. 2016 May;1371(1):55-67. doi: 10.1111/nyas.12990. Epub 2016 Jan 8. Ann N Y Acad Sci. 2016. PMID: 26748992 Free PMC article. Review.
Juvenile neuronal ceroid lipofuscinosis (JNCL; also known as CLN3 disease) is a devastating neurodegenerative lysosomal storage disorder and the most common form of Batten disease. Progressive visual and neurological symptoms lead to mortality in patients by …
Juvenile neuronal ceroid lipofuscinosis (JNCL; also known as CLN3 disease) is a devastating neurodegenerative lysosomal …
The neuronal ceroid-lipofuscinoses.
Goebel HH. Goebel HH. Semin Pediatr Neurol. 1996 Dec;3(4):270-8. doi: 10.1016/s1071-9091(96)80031-3. Semin Pediatr Neurol. 1996. PMID: 8969009 Review.
The neuronal ceroid lipofuscinoses (NCL) are a relatively frequent group of progressive neurodegenerative disorders in children with similar, but not identical, clinical and morphological features, entailing different clinical groups, some of which have been …
The neuronal ceroid lipofuscinoses (NCL) are a relatively frequent group of progressive neurodegenerative disorders in …
Neuronal ceroid lipofuscinoses.
Mole S. Mole S. Eur J Paediatr Neurol. 1999;3(1):43-4. doi: 10.1053/ejpn.1999.0179. Eur J Paediatr Neurol. 1999. PMID: 10727192 Review. No abstract available.
Dictyostelium discoideum: A Model System for Neurological Disorders.
Storey CL, Williams RSB, Fisher PR, Annesley SJ. Storey CL, et al. Cells. 2022 Jan 28;11(3):463. doi: 10.3390/cells11030463. Cells. 2022. PMID: 35159273 Free PMC article. Review.
Dictyostelium discoideum has provided a useful, simple model to aid in unraveling the complex pathological characteristics of neurological disorders including Alzheimer's disease, Parkinson's disease, Huntington's disease, neuronal ceroid lipofuscinoses and l …
Dictyostelium discoideum has provided a useful, simple model to aid in unraveling the complex pathological characteristics of neurological d …
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 …
Adult neuronal ceroid-lipofuscinosis.
Goebel HH, Braak H. Goebel HH, et al. Clin Neuropathol. 1989 May-Jun;8(3):109-19. Clin Neuropathol. 1989. PMID: 2663281 Review.
Among the different clinical forms of neuronal ceroid-lipofuscinosis (NCL), the adult type is the least frequent, most sporadic and most difficult one to diagnose. ...
Among the different clinical forms of neuronal ceroid-lipofuscinosis (NCL), the adult type is the least frequent, most …
68 results