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

Year Number of Results
1971 1
1979 2
1983 1
1986 1
1988 7
1989 3
1990 1
1991 1
1992 2
1993 3
1994 4
1995 7
1996 5
1997 7
1998 7
1999 7
2000 10
2001 7
2002 6
2003 5
2004 5
2005 4
2006 7
2007 2
2008 7
2009 12
2010 6
2011 13
2012 11
2013 14
2014 9
2015 5
2016 4
2017 7
2018 7
2019 8
2020 8
2021 12
2022 8
2023 6
2024 2

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216 results

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Page 1
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. Galosi S, et al. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
Patients presented during infancy or childhood with a variable association of neurodevelopmental disorder, generalized epilepsy, action myoclonus/cortical tremor and ataxia. Later in the disease course, they experienced a slow neurological decline with the emergence of hyp …
Patients presented during infancy or childhood with a variable association of neurodevelopmental disorder, generalized epilepsy, action myoc …
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H. Deneubourg C, et al. Autophagy. 2022 Mar;18(3):496-517. doi: 10.1080/15548627.2021.1943177. Epub 2021 Aug 19. Autophagy. 2022. PMID: 34130600 Free PMC article.
Structural CNS abnormalities, cerebellar involvement, spasticity and peripheral nerve pathology are prominent neurological features, indicating a specific vulnerability of certain neuronal populations to autophagic disturbance. A typically biphasic disease course of late-o …
Structural CNS abnormalities, cerebellar involvement, spasticity and peripheral nerve pathology are prominent neurological features, indicat …
Juvenile neuronal ceroid lipofuscinosis and education.
von Tetzchner S, Fosse P, Elmerskog B. von Tetzchner S, et al. Biochim Biophys Acta. 2013 Nov;1832(11):1894-905. doi: 10.1016/j.bbadis.2013.02.017. Epub 2013 Mar 5. Biochim Biophys Acta. 2013. PMID: 23470553 Free article. Review.
Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4-8 years, and a developmental course that includes blindness, epilepsy, speech problems, dementia, motor coordination problems, and emotional reactions. ...Th …
Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4-8 years, and a developme …
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.
Aberrant protein secretion has also been observed in mammalian models of NCL, which has allowed examination of patient-derived cerebrospinal fluid and urine for potential diagnostic and prognostic biomarkers. Accumulated evidence links seven of the 13 known NCL-related gen …
Aberrant protein secretion has also been observed in mammalian models of NCL, which has allowed examination of patient-derived cerebrospinal …
Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).
Adams HR, Mink JW; University of Rochester Batten Center Study Group. Adams HR, et al. J Child Neurol. 2013 Sep;28(9):1128-36. doi: 10.1177/0883073813494813. J Child Neurol. 2013. PMID: 24014508 Free PMC article. Review.
We review the history of neurobehavioral features in juvenile neuronal ceroid lipofuscinosis and the work of the University of Rochester Batten Center to characterize the extent and progression of neurobehavioral symptoms over the disease course, and discuss the relevance …
We review the history of neurobehavioral features in juvenile neuronal ceroid lipofuscinosis and the work of the University of Rochester Bat …
Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research?
Cooper JD, Mole SE. Cooper JD, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165681. doi: 10.1016/j.bbadis.2020.165681. Epub 2020 Jan 8. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31926264 Free article. Review.
Increasing numbers of original NCL research papers continue to be published, and this new sense of momentum is greatly encouraging for the field. Here, we make some predictions as to what we can anticipate in the next few years....
Increasing numbers of original NCL research papers continue to be published, and this new sense of momentum is greatly encouraging for the f …
The neuronal ceroid lipofuscinoses.
Dyken PR. Dyken PR. J Child Neurol. 1989 Jul;4(3):165-74. doi: 10.1177/088307388900400302. J Child Neurol. 1989. PMID: 2671115 Review.
Such syndromes always have neurological manifestations. Variations in clinical course, genetics, pathogenesis, and possibly treatment occur in each of the several forms listed under this category. ...
Such syndromes always have neurological manifestations. Variations in clinical course, genetics, pathogenesis, and possibly treatment …
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
Yet, metrics to measure disease progression are essential to inform therapeutic decision-making, prognostication, and clinical trial outcomes....
Yet, metrics to measure disease progression are essential to inform therapeutic decision-making, prognostication, and clinical trial …
Management of CLN1 Disease: International Clinical Consensus.
Augustine EF, Adams HR, de Los Reyes E, Drago K, Frazier M, Guelbert N, Laine M, Levin T, Mink JW, Nickel M, Peifer D, Schulz A, Simonati A, Topcu M, Turunen JA, Williams R, Wirrell EC, King S. Augustine EF, et al. Pediatr Neurol. 2021 Jul;120:38-51. doi: 10.1016/j.pediatrneurol.2021.04.002. Epub 2021 Apr 9. Pediatr Neurol. 2021. PMID: 34000449 Free article.
In general, the later the age at symptom onset, the more protracted the disease course. We sought to evaluate current evidence and to develop expert practice consensus to support clinicians who have not previously encountered patients with this rare disease. ...Ascertainme …
In general, the later the age at symptom onset, the more protracted the disease course. We sought to evaluate current evidence and to …
Gait phenotype in Batten disease: A marker of disease progression.
Ostergaard JR. Ostergaard JR. Eur J Paediatr Neurol. 2021 Nov;35:1-7. doi: 10.1016/j.ejpn.2021.09.004. Epub 2021 Sep 14. Eur J Paediatr Neurol. 2021. PMID: 34547583 Free article. Review.
METHODS: In the present review, the clinical picture of gait phenotype during Batten disease course accompanied by descriptions of the known concomitant patho-anatomical changes is presented. ...
METHODS: In the present review, the clinical picture of gait phenotype during Batten disease course accompanied by descriptions of th …
216 results