Works matching DE "NEURONAL ceroid-lipofuscinosis"

Results: 616

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 111, doi. 10.1007/s10048-005-0024-y

By:

Cannelli, Natalia;
Cassandrini, Denise;
Bertini, Enrico;
Striano, Pasquale;
Fusco, Lucia;
Gaggero, Roberto;
Specchio, Nicola;
Biancheri, Roberta;
Vigevano, Federico;
Bruno, Claudio;
Simonati, Alessandro;
Zara, Federico;
Santorelli, Filippo M.

Publication type:

Article

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Published in:

Neurogenetics, 2005, v. 6, n. 3, p. 107, doi. 10.1007/s10048-005-0218-3

By:

Mole, Sara E.;
Williams, Ruth E.;
Goebel, Hans H.

Publication type:

Article

Manganese in manganism, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, and Batten disease: A narrative review.

Published in:

2017

By:

Proudfoot, Owen

Publication type:

journal article

Manganese, manganism and other neurodegenerative diseases: Is it a cause of concern?

Published in:

2017

By:

Rizvi, Imran;
Garg, Ravindra Kumar;
Malhotra, Hardeep Singh;
Kumar, Neeraj;
Uniyal, Ravi

Publication type:

journal article

A Legacy For and Beyond Batten Disease.

Published in:

Bio-IT World, 2010, v. 9, n. 2, p. 37

By:

DAVIES, KEVIN

Publication type:

Article

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis (Communicated by Elizabeth F. Neufeld) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/22/v22.35.html)

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 35, doi. 10.1002/humu.10227

By:

Julie D. Sharp;
Ruth B. Wheeler;
Keith A. Parker;
R. Mark Gardiner;
Ruth E. Williams;
Sara E. Mole

Publication type:

Article

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis (Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 502, doi. 10.1002/humu.10207

By:

Carla A. Teixeira;
Janice Espinola;
Liang Huo;
Johannes Kohlschütter;
Dixie-Ann Persaud Sawin;
Berge Minassian;
Carlos J. P. Bessa;
A. Guimarães;
Dietrich A. Stephan;
Maria Clara Sá Miranda;
Marcy E. MacDonald;
Maria Gil Ribeiro;
Rose-Mary N. Boustany

Publication type:

Article

Diversity of grip in Macaca mulatta.

Published in:

Experimental Brain Research, 2009, v. 197, n. 3, p. 255, doi. 10.1007/s00221-009-1909-z

By:

Macfarlane, Nicholas B. W.;
Graziano, Michael S. A.

Publication type:

Article

Early nerve ending rescue from oxidative damage and energy failure by l-carnitine as post-treatment in two neurotoxic models in rat: recovery of antioxidant and reductive capacities.

Published in:

Experimental Brain Research, 2009, v. 197, n. 3, p. 287, doi. 10.1007/s00221-009-1913-3

By:

Elinos-Calderón, Diana;
Robledo-Arratia, Yolanda;
Pérez-De La Cruz, Verónica;
Pedraza-Chaverrí, José;
Ali, Syed;
Santamaría, Abel

Publication type:

Article

Proximity labelling reveals effects of disease-causing mutation on the DNAJC5/cysteine string protein a interactome.

Published in:

Biochemical Journal, 2024, v. 481, n. 3, p. 141, doi. 10.1042/BCJ20230319

By:

Barker, Eleanor;
Milburn, Amy E.;
Helassa, Nordine;
Hammond, Dean E.;
Sanchez-Soriano, Natalia;
Morgan, Alan;
Barclay, Jeff W.

Publication type:

Article

CLN5 and CLN3 function as a complex to regulate endolysosome function.

Published in:

Biochemical Journal, 2021, v. 478, n. 12, p. 2339, doi. 10.1042/BCJ20210171

By:

Yasa, Seda;
Sauvageau, Etienne;
Modica, Graziana;
Lefrancois, Stephane

Publication type:

Article

Adult-Onset Neuronal Ceroid Lipofuscinosis: CLN5 Variant Presenting as Focal Dystonia.

Published in:

Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.941

By:

Madhavi, Karri;
Kandadai, Rukmini Mridula;
Kola, Sruthi;
Borgohain, Rupam;
Alugolu, Rajesh;
Prasad, Vvsrk;
Nandeesh, Bevinahalli N.;
Govindaraj, Periyasamy

Publication type:

Article

Neurofilament light is a treatment‐responsive biomarker in CLN2 disease.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 12, p. 2437, doi. 10.1002/acn3.50942

By:

Ru, Yuanbin;
Corado, Carley;
Soon, Russell K.;
Melton, Andrew C.;
Harris, Adam;
Yu, Guoying K.;
Pryer, Nancy;
Sinclair, John R.;
Katz, Martin L.;
Ajayi, Temitayo;
Jacoby, David;
Russell, Chris B.;
Chandriani, Sanjay

Publication type:

Article

Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 9, p. 1089, doi. 10.1002/acn3.625

By:

Makoukji, Joelle;
Saadeh, Fadi;
Mansour, Karl Albert;
El‐Sitt, Sally;
Al Ali, Jamal;
Kinarivala, Nihar;
Trippier, Paul C.;
Boustany, Rose‐Mary

Publication type:

Article

Autophagic vacuolar myopathy is a common feature of CLN3 disease.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 11, p. 1385, doi. 10.1002/acn3.662

By:

Radke, Josefine;
Koll, Randi;
Gill, Esther;
Wiese, Lars;
Schulz, Angela;
Kohlschütter, Alfried;
Schuelke, Markus;
Hagel, Christian;
Stenzel, Werner;
Goebel, Hans H.

Publication type:

Article

Evaluation of disease progression in INCL by MR spectroscopy.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 797, doi. 10.1002/acn3.222

By:

Baker, Eva H.;
Levin, Sondra W.;
Zhang, Zhongjian;
Mukherjee, Anil B.

Publication type:

Article

Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype.

Published in:

Annals of Clinical & Translational Neurology, 2014, v. 1, n. 12, p. 1006, doi. 10.1002/acn3.144

By:

Bouchelion, Ashleigh;
Zhang, Zhongjian;
Li, Yichao;
Qian, Haohua;
Mukherjee, Anil B.

Publication type:

Article

Late infantile neuronal ceroid lipofuscinosis with epilepsy as the first symptom: one case report.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 6, p. 446, doi. 10.3969/j.issn.1672-6731.2018.06.011

By:

XIAO Jing

Publication type:

Article

Neuronal ceroid lipofuscinosis in a Border Collie: a case report.

Published in:

2022

By:

Minsu Seo;
Yoonhoi Koo;
Dongjoon Choi;
Sanggu Kim;
Taesik Yun;
Yeon Chae;
Dohee Lee;
Hakhyun Kim;
Mhan-Pyo Yang;
Soochong Kim;
Byeong-Teck Kang

Publication type:

Case Study

Neuronal ceroid lipofuscinosis: clinical and morphologic findings in nine affected Polish Owczarek Nizinny (PON) dogs.

Published in:

Veterinary Ophthalmology, 2007, v. 10, n. 2, p. 111, doi. 10.1111/j.1463-5224.2007.00527.x

By:

Narfström, K.;
Wrigstad, A.;
Ekesten, B.;
Berg, A.-L.

Publication type:

Article

TRPML Cation Channels in Inflammation and Immunity.

Published in:

Frontiers in Immunology, 2020, p. 1, doi. 10.3389/fimmu.2020.00225

By:

Spix, Barbara;
Chao, Yu-Kai;
Abrahamian, Carla;
Chen, Cheng-Chang;
Grimm, Christian

Publication type:

Article

Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis.

Published in:

Journal of Intellectual Disability Research, 2005, v. 49, n. 1, p. 25, doi. 10.1111/j.1365-2788.2005.00659.x

By:

Bäckman, M. L.;
Santavuori, P. R.;
Åberg, L. E.;
Aronen, E. T.

Publication type:

Article

Neuropsychological test battery in the follow-up of patients with juvenile neuronal ceroid lipofuscinosis.

Published in:

Journal of Intellectual Disability Research, 2001, v. 45, n. 1, p. 8, doi. 10.1111/j.1365-2788.2001.00288.x

By:

Lamminranta, S.;
Åberg, L. E.;
Autti, T.;
Moren, R.;
Laine, T.;
Kaukoranta, J.;
Santavuori, P.

Publication type:

Article

Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8<sup>mnd</sup>: implications to delayed myelination and oligodendrocyte maturation.

Published in:

Neuropathology & Applied Neurobiology, 2012, v. 38, n. 5, p. 471, doi. 10.1111/j.1365-2990.2011.01233.x

By:

Kuronen, M.;
Hermansson, M.;
Manninen, O.;
Zech, I.;
Talvitie, M.;
Laitinen, T.;
Gröhn, O.;
Somerharju, P.;
Eckhardt, M.;
Cooper, J. D.;
Lehesjoki, A.-E.;
Lahtinen, U.;
Kopra, O.

Publication type:

Article

Altered arginine metabolism in the central nervous system (CNS) of the Cln3<sup>− /−</sup> mouse model of juvenile Batten disease.

Published in:

Neuropathology & Applied Neurobiology, 2009, v. 35, n. 2, p. 189, doi. 10.1111/j.1365-2990.2008.00984.x

By:

Chan, C.-H.;
Ramirez-Montealegre, D.;
Pearce, D. A.

Publication type:

Article

Distinct patterns of serum immunoreactivity as evidence for multiple brain-directed autoantibodies in juvenile neuronal ceroid lipofuscinosis.

Published in:

Neuropathology & Applied Neurobiology, 2006, v. 32, n. 5, p. 469, doi. 10.1111/j.1365-2990.2006.00738.x

By:

Lim, M. J.;
Beake, J.;
Bible, E.;
Curran, T. M.;
Ramirez-Montealegre, D.;
Pearce, D. A.;
Cooper, J. D.

Publication type:

Article

Profound loss of GABAergic interneurons in the PPT1 knockout mouse model of infantile neuronal ceroid lipofuscinosis.

Published in:

Neuropathology & Applied Neurobiology, 2002, v. 28, n. 2, p. 158, doi. 10.1046/j.1365-2990.2002.39286_29.x

By:

Cooper, J. D.;
Gupta, P.;
Bible, E.;
Hofmann, S.;
Lantos, P.

Publication type:

Article

Proceedings of the Centenary Meeting of the British Neuropathological Society held at Goldsmiths' Hall, London, January 2001.

Published in:

Neuropathology & Applied Neurobiology, 2001, v. 27, n. 2, p. 146, doi. 10.1046/j.0305-1846.2000.02000.x

By:

Graham, D. I.

Publication type:

Article

Goebel H.H., Mole S.E. and Lake B.D. (Eds)The Neuronal Ceroid Lipofuscinoses (Batten Disease)IOS Press, Amsterdam, Berlin, Oxford, Washington DC, 1999 ISBN 90–5199 481 8 and Ohmsha, Toyko. ISBN 4274 90287 0 C3047. 197 pp. Price £86.

Published in:

2000

By:

Jolly, R.D.

Publication type:

Book Review

13 Workshop: Metabolic Disorders.

Published in:

Neuropathology & Applied Neurobiology, 1999, v. 25, p. 36

By:

Goebel, H. H.

Publication type:

Article

Full-field ERG in patients with Batten/Spielmeyer-Vogt disease causedby mutations in the CLN3 gene.

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 2, p. 69, doi. 10.1076/1381-6810(200006)21:2;1-8;FT069

By:

Eksandh, Louise;
Ponjavic, Vesna;
Munroe, Patricia B.;
Eiberg, Hans;
Uvebrant, Paul;
Ehinger, Berndt;
Mole, Sara E.;
Andréasson, Sten

Publication type:

Article

Early onset Huntington disease: a neuronal degeneration syndrome.

Published in:

2004

By:

Seneca, Sara;
Fagnart, Dominique;
Keymolen, Kathelijn;
Lissens, Willy;
Hasaerts, Daniele;
Debulpaep, Sara;
Desprechins, Brigitte;
Liebaers, Inge;
De Meirleir, Linda;
Fagnart, Domique

Publication type:

journal article

Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy.

Published in:

Drugs, 2021, v. 81, n. 1, p. 101, doi. 10.1007/s40265-020-01440-7

By:

Specchio, Nicola;
Ferretti, Alessandro;
Trivisano, Marina;
Pietrafusa, Nicola;
Pepi, Chiara;
Calabrese, Costanza;
Livadiotti, Susanna;
Simonetti, Alessandra;
Rossi, Paolo;
Curatolo, Paolo;
Vigevano, Federico

Publication type:

Article

Multiple cranial nerve enhancement in a case of neuronal ceroid lipofuscinosis type 8.

Published in:

Neurosciences, 2022, v. 27, n. 1, p. 50, doi. 10.17712/nsj.2022.1.20210107

By:

Alsini, Hanin;
Zakzouk, Reem;
Hundallah, Khaled;
Tabarki, Brahim

Publication type:

Article

ATP13A2 (PARK9) and basal ganglia function.

Published in:

Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2023.1252400

By:

Croucher, Kristina M.;
Fleming, Sheila M.

Publication type:

Article

Treatment of non-epileptic episodes of anxious, fearful behavior in adolescent juvenile neuronal ceroid lipofuscinosis (CLN3 disease).

Published in:

Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1216861

By:

Ostergaard, John R.

Publication type:

Article

Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6.

Published in:

Genes, 2024, v. 15, n. 6, p. 661, doi. 10.3390/genes15060661

By:

Mhlanga-Mutangadura, Tendai;
Bullock, Garrett;
Cerda-Gonzalez, Sofia;
Katz, Martin L.

Publication type:

Article

Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions.

Published in:

Genes, 2024, v. 15, n. 2, p. 246, doi. 10.3390/genes15020246

By:

Keller, Stefan H.;
Johnson, Gary S.;
Bullock, Garrett;
Mhlanga-Mutangadura, Tendai;
Schwartz, Malte;
Pattridge, Savannah G.;
Guo, Juyuan;
Kortz, Gregg D.;
Katz, Martin L.

Publication type:

Article

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.

Published in:

Genes, 2023, v. 14, n. 2, p. 245, doi. 10.3390/genes14020245

By:

Pasquetti, Domizia;
Marangi, Giuseppe;
Orteschi, Daniela;
Carapelle, Marina;
L'Erario, Federica Francesca;
Venditti, Romina;
Maietta, Sabrina;
Battaglia, Domenica Immacolata;
Contaldo, Ilaria;
Veredice, Chiara;
Zollino, Marcella

Publication type:

Article

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report.

Published in:

Genes, 2021, v. 12, n. 7, p. 956, doi. 10.3390/genes12070956

By:

Badura-Stronka, Magdalena;
Winczewska-Wiktor, Anna;
Pietrzak, Anna;
Hirschfeld, Adam Sebastian;
Zemojtel, Tomasz;
Wołyńska, Katarzyna;
Bednarek-Rajewska, Katarzyna;
Seget-Dubaniewicz, Monika;
Matheisel, Agnieszka;
Latos-Bielenska, Anna;
Steinborn, Barbara

Publication type:

Article

Geç infantil næronal seroid lipofusinoz: Bir olgu sunumu.

Published in:

Türk Pediatri Arşivi, 2010, v. 45, n. 2, p. 155, doi. 10.4274/Turk Ped Ars.45.155

By:

Yişş, Uluç;
Kurul, Semra Hız;
Özoğul, Candan;
Dirik, Eray

Publication type:

Article

Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature.

Published in:

European Journal of Neurology, 2012, v. 19, n. 10, p. 1331, doi. 10.1111/j.1468-1331.2012.03748.x

By:

Ferlazzo, E.;
Gasparini, S.;
Pasquinelli, G.;
Labate, A.;
Gambardella, A.;
Sofia, V.;
Cianci, V.;
Branca, D.;
Quattrone, A.;
Aguglia, U.

Publication type:

Article

Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.

Published in:

European Journal of Neurology, 2007, v. 14, n. 4, p. 369, doi. 10.1111/j.1468-1331.2007.01668.x

By:

Kälviäinen, R.;
Eriksson, K.;
Losekoot, M.;
Sorri, I.;
Harvima, I.;
Santavuori, P.;
Järvelä, I.;
Autti, T.;
Vanninen, R.;
Salmenperä, T.;
van Diggelen, O. P.

Publication type:

Article

Thalami and corona radiata in juvenile NCL (CLN3): a voxel-based morphometric study.

Published in:

European Journal of Neurology, 2007, v. 14, n. 4, p. 447, doi. 10.1111/j.1468-1331.2007.01692.x

By:

Autti, T.;
Hämäläinen, J.;
Åberg, L.;
Lauronen, L.;
Tyynelä, J.;
Van Leemput, K.

Publication type:

Article

Proceedings of the Anatomical Society.

Published in:: Journal of Anatomy, 2013, v. 223, n. 1, p. 83, doi. 10.1111/joa.12058
Publication type:: Article

Searching for novel biomarkers using a mouse model of CLN3-Batten disease.

Published in:

PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0201470

By:

Timm, Derek;
Cain, Jacob T.;
Geraets, Ryan D.;
White, Katherine A.;
Koh, Seung yon;
Kielian, Tammy;
Pearce, David A.;
Hastings, Michelle L.;
Weimer, Jill M.

Publication type:

Article

Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis.

Published in:

PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0192286

By:

Nemtsova, Yuliya;
Wiseman, Jennifer A.;
El-Banna, Mukarram;
Lobel, Peter;
Sleat, David E.

Publication type:

Article

Challenging symptoms in children with rare life-limiting conditions: findings from a prospective diary and interview study with families.

Published in:

Acta Paediatrica, 2012, v. 101, n. 9, p. 985, doi. 10.1111/j.1651-2227.2012.02680.x

By:

Malcolm, C;
Hain, R;
Gibson, F;
Adams, S;
Anderson, G;
Forbat, L

Publication type:

Article

Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.

Published in:

2018

By:

Sima, Ni;
Li, Rong;
Huang, Wei;
Xu, Miao;
Beers, Jeanette;
Zou, Jizhong;
Titus, Steven;
Ottinger, Elizabeth A.;
Marugan, Juan J.;
Xie, Xing;
Zheng, Wei

Publication type:

journal article

A 13-YEAR OLD FEMALE WITH INTRACTABLE SEIZURES.

Published in:

2015

By:

Can, Nhu Thuy;
Nolan, Amber;
Waggoner, Darrel;
Silver, Kenneth;
Pytel, Peter

Publication type:

Case Study