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

Year Number of Results
1969 1
1972 1
1973 2
1974 2
1975 4
1976 3
1977 3
1978 5
1979 3
1980 1
1981 4
1982 5
1983 5
1984 3
1985 3
1986 1
1987 7
1988 10
1989 4
1990 5
1991 5
1992 8
1993 13
1994 6
1995 11
1996 9
1997 20
1998 12
1999 17
2000 19
2001 20
2002 6
2003 9
2004 10
2005 5
2006 9
2007 9
2008 4
2009 13
2010 4
2011 10
2012 19
2013 27
2014 13
2015 12
2016 19
2017 11
2018 25
2019 23
2020 24
2021 21
2022 21
2023 21
2024 14

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481 results

Results by year

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Page 1
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Cysteine string proteins.
Gundersen CB. Gundersen CB. Prog Neurobiol. 2020 May;188:101758. doi: 10.1016/j.pneurobio.2020.101758. Epub 2020 Feb 7. Prog Neurobiol. 2020. PMID: 32044380 Review.
Additionally, mutations in the csp-alpha gene cause an adult-onset, neuronal ceroid lipofuscinosis and diminished CSP-alpha expression is an early event in Alzheimer's disease. ...
Additionally, mutations in the csp-alpha gene cause an adult-onset, neuronal ceroid lipofuscinosis and diminished CSP-a …
Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy.
Specchio N, Ferretti A, Trivisano M, Pietrafusa N, Pepi C, Calabrese C, Livadiotti S, Simonetti A, Rossi P, Curatolo P, Vigevano F. Specchio N, et al. Drugs. 2021 Jan;81(1):101-123. doi: 10.1007/s40265-020-01440-7. Drugs. 2021. PMID: 33242182 Review.
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal storage diseases that together represent the most common cause of dementia in children. ...
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal storage diseases that togethe …
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.
The first approved treatment is an intracerebroventricularly administered enzyme for neuronal ceroid lipofuscinosis type 2 disease that delays symptom progression. ...
The first approved treatment is an intracerebroventricularly administered enzyme for neuronal ceroid lipofuscinosis typ …
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 …
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.
Dozières-Puyravel B, Nasser H, Elmaleh-Bergès M, Lopez Hernandez E, Gelot A, Ilea A, Delanoë C, Puech JP, Caillaud C, Pichard S, Auvin S. Dozières-Puyravel B, et al. Dev Med Child Neurol. 2020 Apr;62(4):528-530. doi: 10.1111/dmcn.14346. Epub 2019 Sep 5. Dev Med Child Neurol. 2020. PMID: 31489614 Free article.
Causal mutations were identified in 10 patients. Eleven patients had neuronal ceroid lipofuscinosis type 2 (CLN2) disease and their most common presenting symptom was seizures, although motor and language defects were also reported. ...
Causal mutations were identified in 10 patients. Eleven patients had neuronal ceroid lipofuscinosis type 2 (CLN2) disea …
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.
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.
Progressive myoclonic epilepsy.
Zupanc ML, Legros B. Zupanc ML, et al. Cerebellum. 2004;3(3):156-71. doi: 10.1080/14734220410035356. Cerebellum. 2004. PMID: 15543806 Review.
This article discusses epidemiology, genetics, pathology, clinical manifestations, EEG characteristics, methods of diagnosis and treatment of the most common causes of PME, including Unverricht-Lundborg Disease (Baltic Myoclonus), MERRF, neuronal ceroid lipofusci …
This article discusses epidemiology, genetics, pathology, clinical manifestations, EEG characteristics, methods of diagnosis and treatment o …
481 results