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Select item 117041261.

Two-year follow-up of gait and postural control following initiation of recombinant human tripeptidyl intracerebroventricular enzyme replacement therapy in two atypical CLN2 patients

Rahul Soangra, Marybeth Grant-Beuttler, Harriet Chang, Raymond Y. Wang

Sci Rep. 2025; 15: 1042. Published online 2025 Jan 7. doi: 10.1038/s41598-024-82157-5

PMCID:: PMC11704126

Abstract Article PDF–2.8M

Select item 116573652.

Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills

Saima Kayani, Veronica BordesEdgar, Andrea Lowden, Emily R. Nettesheim, Hamza Dahshi, Souad Messahel, Berge A. Minassian, Benjamin M. Greenberg

Orphanet J Rare Dis. 2024; 19: 468. Published online 2024 Dec 19. doi: 10.1186/s13023-024-03448-8

PMCID:: PMC11657365

Abstract Article PDF–2.1M

Select item 115630353.

Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease

Jimin Han, Sueanne Chear, Jana Talbot, Vicki Swier, Clarissa Booth, Cheyenne Reuben-Thomas, Sonal Dalvi, Jill M. Weimer, Alex W. Hewitt, Anthony L. Cook, Ruchira Singh

Invest Ophthalmol Vis Sci. 2024 Nov; 65(13): 23. Published online 2024 Nov 13. doi: 10.1167/iovs.65.13.23

PMCID:: PMC11563035

Abstract Article PDF–2.7M

Select item 114510074.

CLN3 transcript complexity revealed by long-read RNA sequencing analysis

Hao-Yu Zhang, Christopher Minnis, Emil Gustavsson, Mina Ryten, Sara E. Mole

BMC Med Genomics. 2024; 17: 244. Published online 2024 Oct 4. doi: 10.1186/s12920-024-02017-z

PMCID:: PMC11451007

Abstract Article PDF–1.9M

Select item 113038175.

Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants

Sigurd Dobloug, Ulrika Kjellström, Glenn Anderson, Emily Gardner, Sara E. Mole, Jayesh Sheth, Andreas Puschmann

Mol Genet Genomic Med. 2024 Aug; 12(8): e2505. Published online 2024 Aug 7. doi: 10.1002/mgg3.2505

PMCID:: PMC11303817

Abstract Article PDF–3.5M

Select item 112951576.

Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy—Oldest case of a presymptomatic enzyme therapy

Delphine Breuillard, Lisa Ouss, Marie Thérèse Le Normand, Timothée de Saint Denis, Christine Barnerias, Matthieu P. Robert, Monika Eisermann, Nathalie Boddaert, Catherine Caillaud, Nadia Bahi‐Buisson, Isabelle Desguerre, Mélodie Aubart

Eur J Neurol. 2024 Sep; 31(9): e16324. Published online 2024 May 1. doi: 10.1111/ene.16324

PMCID:: PMC11295157

Abstract Article PDF–537K

Select item 111639727.

Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model

Maria Marchese, Sara Bernardi, Asahi Ogi, Rosario Licitra, Giada Silvi, Serena Mero, Daniele Galatolo, Nicola Gammaldi, Stefano Doccini, Gian Michele Ratto, Simona Rapposelli, Stephan C.F. Neuhauss, Jingjing Zang, Silvia Rocchiccioli, Elena Michelucci, Elisa Ceccherini, Filippo M. Santorelli

Neurobiol Dis. 2024 Jul; 197: 106536. doi: 10.1016/j.nbd.2024.106536

PMCID:: PMC11163972

Abstract Article

Select item 110942958.

Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report

Federico Baltar, Camila Simoes, Francisco Garagorry, Martín Graña, Soledad Rodríguez, María Haydée Aunchayna, Alejandra Tapié, Alfredo Cerisola, Gabriel González, Hugo Naya, Lucía Spangenberg, Víctor Raggio

Front Pediatr. 2024; 12: 1379254. Published online 2024 May 1. doi: 10.3389/fped.2024.1379254

PMCID:: PMC11094295

Abstract Article PDF–1.7M

Select item 108512229.

Ziyu Liu, Zahra Zeinalzadeh, Tao Huang, Yingying Han, Lushan Peng, Dan Wang, Zongjiang Zhou, DIABATE Ousmane, Junpu Wang

Transl Oncol. 2024 Apr; 42: 101896. Published online 2024 Feb 6. doi: 10.1016/j.tranon.2024.101896

PMCID:: PMC10851222

Abstract Article PDF–19M

Select item 1048049310.

The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis

Sara Bernardi, Federica Gemignani, Maria Marchese

Neurobiol Dis. 2023 Sep; 185: 106258. doi: 10.1016/j.nbd.2023.106258

PMCID:: PMC10480493

Abstract Article

Select item 1036688611.

Multi-Omics Data Analysis Identifies Prognostic Biomarkers across Cancers

Ezgi Demir Karaman, Zerrin Işık

Med Sci (Basel) 2023 Sep; 11(3): 44. Published online 2023 Jun 27. doi: 10.3390/medsci11030044

PMCID:: PMC10366886

Abstract Article PDF–1.7M

Select item 1026276712.

Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses

Yalan Wang, Hongyan Wang, Chenji Wang

Autophagy. 2023; 19(6): 1876–1878. Published online 2022 Nov 11. doi: 10.1080/15548627.2022.2140882

PMCID:: PMC10262767

Abstract Article PDF–746K

Select item 1015048913.

A novel candidate gene CLN8 regulates fat deposition in avian

Xiaoqin Li, Fan Zhang, Yunxiao Sun, Dandan Sun, Fangxi Yang, Yongtong Liu, Zhuocheng Hou

J Anim Sci Biotechnol. 2023; 14: 70. Published online 2023 May 1. doi: 10.1186/s40104-023-00864-x

PMCID:: PMC10150489

Abstract Article PDF–4.8M

Select item 1001948814.

Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes

Masha Kolesnikova, Jose Ronaldo Lima de Carvalho, Jr., Jin Kyun Oh, Megan Soucy, Aykut Demirkol, Angela H. Kim, Stephen H. Tsang, Mark P. Breazzano

Invest Ophthalmol Vis Sci. 2023 Mar; 64(3): 23. Published online 2023 Mar 13. doi: 10.1167/iovs.64.3.23

PMCID:: PMC10019488

Abstract Article PDF–3.5M

Select item 995637615.

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

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

Genes (Basel) 2023 Feb; 14(2): 245. Published online 2023 Jan 17. doi: 10.3390/genes14020245

PMCID:: PMC9956376

Abstract Article PDF–10M

Select item 985991016.

Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease

Joanna Karolina Purzycka-Olewiecka, Katarzyna Hetmańczyk-Sawicka, Tomasz Kmieć, Dominika Szczęśniak, Joanna Trubicka, Maciej Krawczyński, Maciej Pronicki, Agnieszka Ługowska

Metab Brain Dis. 2023; 38(2): 709–715. Published online 2022 Dec 28. doi: 10.1007/s11011-022-01148-5

PMCID:: PMC9859910

Abstract Article PDF–2.2M

Select item 980994917.

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

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

Autophagy. 2023; 19(1): 204–223. Published online 2022 May 4. doi: 10.1080/15548627.2022.2065618

PMCID:: PMC9809949

Abstract Article PDF–6.8M

Select item 965291918.

Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8^mnd mice

Andrew D. Holmes, Katherine A. White, Melissa A. Pratt, Tyler B. Johnson, Shibi Likhite, Kathrin Meyer, Jill M. Weimer

Orphanet J Rare Dis. 2022; 17: 411. Published online 2022 Nov 11. doi: 10.1186/s13023-022-02564-7

PMCID:: PMC9652919

Abstract Article PDF–4.0M

Select item 954560319.

Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

Fernanda Leal‐Pardinas, Rebecca Truty, Dianalee A. McKnight, Britt Johnson, Ana Morales, Sara L. Bristow, Tiffany Yar Pang, Jessica Cohen‐Pfeffer, Emanuela Izzo, Raman Sankar, Sookyong Koh, Elaine C. Wirrell, John J. Millichap, Swaroop Aradhya

Epilepsia. 2022 Jul; 63(7): e68–e73. Published online 2022 May 10. doi: 10.1111/epi.17269