Works matching Neuronal ceroid-lipofuscinosis

Results: 1078

Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses.

Published in:

Neurology India, 2012, v. 60, n. 3, p. 316, doi. 10.4103/0028-3886.98524

By:

Kamate, Mahesh;
Prashanth, Gowda P.;
Hattiholi, Virupaxi

Publication type:

Article

A Novel c.1135_1138delCTGT Mutation in CLN3 Leads to Juvenile Neuronal Ceroid Lipofuscinosis.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 9, p. 1112, doi. 10.1177/0883073813494812

By:

Drack, Arlene V.;
Miller, Jake N.;
Pearce, David A.

Publication type:

Article

Lipofuscinosis neuronal ceroidea infantil tardía: Reporte de un caso.

Published in:

Revista Mexicana de Neurociencia, 2013, v. 14, n. 1, p. 44

By:

Andrade-Bañuelos, Andrea;
Jean-Tron, Guadalupe;
Ortega-Ponce, Fabiola;
Arnold, Susan;
Rana, Said;
Islas-García, David

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

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

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

Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report.

Published in:

2018

By:

Hosseini Bereshneh, Ali;
Garshasbi, Masoud

Publication type:

journal article

Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.

Published in:

Clinical Genetics, 2005, v. 68, n. 2, p. 167, doi. 10.1111/j.1399-0004.2005.00471.x

By:

Siintola, E.;
Topcu, M.;
Kohlschütter, A.;
Salonen, T.;
Joensuu, T.;
Anttonen, A.-K.;
Lehesjoki, A.-E.

Publication type:

Article

Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPα mutants causes lipofuscin accumulation.

Published in:

Autophagy, 2023, v. 19, n. 1, p. 204, doi. 10.1080/15548627.2022.2065618

By:

Lee, Juhyung;
Xu, Yue;
Saidi, Layla;
Xu, Miao;
Zinsmaier, Konrad;
Ye, Yihong

Publication type:

Article

Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 4, p. 1083, doi. 10.1093/brain/awt020

By:

Groh, Janos;
Kühl, Thomas G.;
Ip, Chi Wang;
Nelvagal, Hemanth R.;
Sri, Sarmi;
Duckett, Steven;
Mirza, Myriam;
Langmann, Thomas;
Cooper, Jonathan D.;
Martini, Rudolf

Publication type:

Article

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01039-5

By:

Li, Wei;
Fan, Xin;
Zhang, Yue;
Huang, Limei;
Jiang, Tingting;
Qin, Zailong;
Su, Jiasun;
Luo, Jingrong;
Yi, Shang;
Zhang, Shujie;
Shen, Yiping

Publication type:

Article

Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.807515

By:

Qiao, Yimeng;
Gu, Yang;
Cheng, Ye;
Su, Yu;
Lv, Nan;
Shang, Qing;
Xing, Qinghe

Publication type:

Article

Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis.

Published in:

2013

By:

Khan, Arif;
Kwong S. Chieng;
Baheerathan, Aravindhan;
Hussain, Nahin;
Gosalakkal, Jayprakash

Publication type:

Case Study

Biochemical Characterization of a Lysosomal Protease Deficient in Classical Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) and Development of an Enzyme-Based Assay for Diagnosis and Exclusion of LINCL in HUman Specimens and Animal Models.

Published in:

Journal of Neurochemistry, 1999, v. 73, n. 2, p. 700, doi. 10.1046/j.1471-4159.1999.0730700.x

By:

Sohar, Istvan;
Sleat, David E.;
Jadot, Michel;
Lobel, Peter

Publication type:

Article

Late Infantile Neuronal Ceroid Lipofuscinosis in a Tunisian Boy.

Published in:

Neuro-Ophthalmology, 2008, v. 32, n. 4, p. 210, doi. 10.1080/01658100802266982

By:

Tinsa, Faten;
Caillaud, Catherine;
Jallouli, Manel;
Louati, Hela;
Bousnina, Dorra;
Boussetta, Khadija;
Bousnina, Souad

Publication type:

Article

Review of Cerliponase Alfa: Recombinant Human Enzyme Replacement Therapy for Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2.

Published in:

Journal of Child Neurology, 2020, v. 35, n. 5, p. 348, doi. 10.1177/0883073819895694

By:

Lewis, Grace;
Morrill, Amanda M.;
Conway-Allen, Stephanie L.;
Kim, Bernard

Publication type:

Article

Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.

Published in:

2018

By:

Ge, Lv;
Li, Han Yun;
Hai, Yuan;
Min, Liu;
Xing, Li;
Min, Jiang;
Shu, Hu Xiang;
Mei, Ou Yang;
Hua, Li

Publication type:

Case Study

Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.

Published in:

2018

By:

Lv Ge;
Han Yun Li;
Yuan Hai;
Liu Min;
Li Xing;
Jiang Min;
Hu Xiang Shu;
Ou Yang Mei;
Li Hua

Publication type:

Case Study

Unique Characteristics of the Photoparoxysmal Response in Patients With Neuronal Ceroid Lipofuscinosis Type 2.

Published in:

Journal of Child Neurology, 2016, v. 31, n. 13, p. 1475, doi. 10.1177/0883073816658659

By:

Albert, Dara V.;
Yin, Han;
De Los Reyes, Emily C.;
Vidaurre, Jorge

Publication type:

Article

Treatment of the Ppt1–/– Mouse Model of Infantile Neuronal Ceroid Lipofuscinosis With the N-methyl-d-aspartate (NMDA) Receptor Antagonist Memantine.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 9, p. 1159, doi. 10.1177/0883073813494480

By:

Finn, Rozzy;
Kovács, Attila D.;
Pearce, David A.

Publication type:

Article

Regional Brain Atrophy in Mouse Models of Neuronal Ceroid Lipofuscinosis: A New Rostrocaudal Perspective.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 9, p. 1117, doi. 10.1177/0883073813494479

By:

Kühl, Thomas G.;
Dihanich, Sybille;
Wong, Andrew M. S.;
Cooper, Jonathan D.

Publication type:

Article

A Novel c.776_777insA Mutation in CLN1 Leads to Infantile Neuronal Ceroid Lipofuscinosis.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 9, p. 1106, doi. 10.1177/0883073813494267

By:

Miller, Jake N.;
Pearce, David A.

Publication type:

Article

Seizure Susceptibility, Phenotype, and Resultant Growth Delay in the nclf and mnd Mouse Models of Neuronal Ceroid Lipofuscinoses.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 9, p. 1137, doi. 10.1177/0883073813493667

By:

Kriscenski-Perry, Elizabeth;
Kovács, Attila D.;
Pearce, David A.

Publication type:

Article

RAGE signaling contributes to neuroinflammation in infantile neuronal ceroid lipofuscinosis

Published in:

FEBS Letters, 2008, v. 582, n. 27, p. 3823, doi. 10.1016/j.febslet.2008.10.015

By:

Saha, Arjun;
Kim, Sung-Jo;
Zhang, Zhongjian;
Lee, Yi-Ching;
Sarkar, Chinmoy;
Tsai, Pei-Chih;
Mukherjee, Anil B.

Publication type:

Article

Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis.

Published in:

Journal of Neurochemistry, 2008, v. 106, n. 3, p. 1415, doi. 10.1111/j.1471-4159.2008.05497.x

By:

Jabs, Sabrina;
Quitsch, Arne;
Käkel, Reijo;
Koch, Bettina;
Tyynel, Jaana;
Brade, Helmut;
Glatzel, Markus;
Walkley, Steven;
Saftig, Paul;
Vanier, Marie T.;
Braulke, Thomas

Publication type:

Article

Early Symptoms and Treatment Outcomes in Neuronal Ceroid Lipofuscinosis Type 2: Croatian Experience.

Published in:

Journal of Personalized Medicine, 2024, v. 14, n. 8, p. 783, doi. 10.3390/jpm14080783

By:

Radić Nišević, Jelena;
Kolić, Ivana;
Kostanjski, Marija;
Kovačević, Franka;
Prpić, Igor

Publication type:

Article

Screening and Carrier Rate of Neuronal Ceroid Lipofuscinosis in Chihuahua Dogs in Japan.

Published in:

Animals (2076-2615), 2022, v. 12, n. 9, p. N.PAG, doi. 10.3390/ani12091210

By:

Pervin, Shahnaj;
Islam, Md Shafiqul;
Tada, Naomi;
Tsutsui, Toshihiko;
Rahman, Mohammad Mahbubur;
Yabuki, Akira;
Tacharina, Martia Rani;
Rakib, Tofazzal Md;
Maki, Shinichiro;
Yamato, Osamu

Publication type:

Article

Neuronal Ceroid Lipofuscinosis in Qatar: Report of a Novel Mutation in Ceroid-Lipofuscinosis, Neuronal 5 in the Arab Population.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 5, p. 625, doi. 10.1177/0883073810387298

By:

Al-Kowari, Moza K.;
Hassan, Sara;
El-Said, Mahmoud F.;
Ben-Omran, Tawfeg;
Hedin, Lars;
Mole, Sara E.;
Badii, Ramin

Publication type:

Article

Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2/Jansky- Bielschowsky Type) in Oman.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 5, p. 555, doi. 10.1177/0883073807302613

By:

Koul, Roshan;
Al-Futaisi, Amna;
Ganesh, Anuradha;
Bushnarmuth, Shivayogi Rangnath

Publication type:

Article

Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5.

Published in:

Movement Disorders Clinical Practice, 2022, v. 9, n. 8, p. 1116, doi. 10.1002/mdc3.13562

By:

Lange, Lara M.;
Schell, Nathalie;
Tunc, Sinem;
Shoukier, Moneef;
Weißbach, Anne;
Hellenbroich, Yorck;
Brüggemann, Norbert

Publication type:

Article

Lipofuscinosis neuronal ceroidea tipo 2 (CLN2): primer caso diagnosticado en Panamá, causado por una variante patogénica del gen TPP1 producida por una mutación sin sentido.

Published in:

2023

By:

Daniel Austin-Ward, Enrique;
Vergara, Yadia

Publication type:

Case Study

A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.

Published in:

BMC Veterinary Research, 2014, v. 10, n. 1, p. 1, doi. 10.1186/s12917-014-0181-z

By:

Guo, Juyuan;
O'Brien, Dennis P.;
Mhlanga-Mutangadura, Tendai;
Olby, Natasha J.;
Taylor, Jeremy F.;
Schnabel, Robert D.;
Katz, Martin L.;
Johnson, Gary S.

Publication type:

Article

In response: Natural history variations for neuronal ceroid lipofuscinosis type 2: In support of newborn screening.

Published in:

Epilepsia (Series 4), 2023, v. 64, n. 8, p. 2216, doi. 10.1111/epi.17620

By:

Espitia Segura, Oscar Mauricio;
Penagos Vargas, Nathalia Elena

Publication type:

Article

Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease.

Published in:

Epilepsia (Series 4), 2017, v. 58, n. 8, p. 1380, doi. 10.1111/epi.13820

By:

Specchio, Nicola;
Bellusci, Marcello;
Pietrafusa, Nicola;
Trivisano, Marina;
Palma, Luca;
Vigevano, Federico

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

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

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

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

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 novel CLN5 mutation in Turkish patient with variant late-onset neuronal ceroid lipofuscinosis and recurrent fractures that causes severe morbidity.

Published in:

2021

By:

Duz, Mehmet Bugrahan

Publication type:

Case Study

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

Published in:

Journal of Neurology, 2003, v. 250, n. 6, p. 661, doi. 10.1007/S00415-003-1050-z

By:

Teixeira, Carla;
Guimarães, António;
Bessa, Carlos;
Ferreira, Maria José;
Lopes, Lurdes;
Pinto, Eugénia;
Pinto, Rui;
Boustany, Rose-Mary;
Sá Miranda, Maria Clara;
Ribeiro, Maria Gil

Publication type:

Article

A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.

Published in:

Journal of Neurology, 2002, v. 249, n. 10, p. 1398, doi. 10.1007/s00415-002-0849-3

By:

Mazzei, Rosalucia;
Conforti, Francesca L.;
Magariello, Angela;
Bravaccio, Carmela;
Militerni, Roberto;
Gabriele, Anna L.;
Sampaolo, Simone;
Patitucci, Alessandra;
Di Iorio, Giuseppe;
Muglia, Maria;
Quattrone, Aldo

Publication type:

Article

Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis.

Published in:

Acta Neuropathologica, 2014, v. 127, n. 6, p. 845, doi. 10.1007/s00401-014-1262-6

By:

Götzl, Julia;
Mori, Kohji;
Damme, Markus;
Fellerer, Katrin;
Tahirovic, Sabina;
Kleinberger, Gernot;
Janssens, Jonathan;
Zee, Julie;
Lang, Christina;
Kremmer, Elisabeth;
Martin, Jean-Jacques;
Engelborghs, Sebastiaan;
Kretzschmar, Hans;
Arzberger, Thomas;
Broeckhoven, Christine;
Haass, Christian;
Capell, Anja

Publication type:

Article

Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses.

Published in:

Acta Neuropathologica, 2006, v. 111, n. 2, p. 168, doi. 10.1007/s00401-005-0024-x

By:

Hachiya, Yasuo;
Hayashi, Masaharu;
Kumada, Satoko;
Uchiyama, Akira;
Tsuchiya, Kuniaki;
Kurata, Kiyoko

Publication type:

Article

Neuronal ceroid lipofuscinosis: late infantile or Janský Bielschowsky type – re-revisited.

Published in:

Acta Neuropathologica, 2001, v. 102, n. 5, p. 485, doi. 10.1007/s004010100403

By:

Wheeler, R. B.;
Schlie, M.;
Kominami, E.;
Gerhard, L.;
Goebel, H. H.

Publication type:

Article

Equine neuronal ceroid lipofuscinosis.

Published in:

Acta Neuropathologica, 2001, v. 101, n. 4, p. 410, doi. 10.1007/s004010000298

By:

Url, Angelika;
Bauder, Barbara;
Thalhammer, Johann;
Nowotny, Norbert;
Kolodziejek, Jolanta;
Herout, Nicole;
Fürst, Siegfried;
Weissenböck, Herbert

Publication type:

Article

Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin.

Published in:

Cells (2073-4409), 2018, v. 7, n. 11, p. 188, doi. 10.3390/cells7110188

By:

Mathavarajah, Sabateeshan;
O'Day, Danton H.;
Huber, Robert J.

Publication type:

Article

Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2.

Published in:

Brain Sciences (2076-3425), 2023, v. 13, n. 2, p. 209, doi. 10.3390/brainsci13020209

By:

Sivananthan, Siyamini;
Lee, Laura;
Anderson, Glenn;
Csanyi, Barbara;
Williams, Ruth;
Gissen, Paul

Publication type:

Article

A Murine Model of Infantile Neuronal Ceroid Lipofuscinosis--Ultrastructural Evaluation of Storage in the Central Nervous System and Viscera.

Published in:

Pediatric & Developmental Pathology, 2008, v. 11, n. 3, p. 185, doi. 10.2350/07-03-0242.1

By:

Galvin, Nancy;
Vogler, Carole;
Levy, Beth;
Kovacs, Attila;
Griffey, Megan;
Sands, Mark S.

Publication type:

Article

Autofluorescence and Infrared Retinal Imaging in patients and obligate carriers with Neuronal Ceroid Lipofuscinosis.

Published in:

Ophthalmic Genetics, 2009, v. 30, n. 4, p. 190, doi. 10.3109/13816810903258829

By:

Kelly, John P.;
Weiss, Avery H.;
Rowell, Gus;
Seigel, Gail M.

Publication type:

Article