PMC Articles for MedGen (Select 388595) - PMC

John F. Staropoli, Amel Karaa, Elaine T. Lim, Andrew Kirby, Naser Elbalalesy, Stephen G. Romansky, Karen B. Leydiker, Scott H. Coppel, Rosemary Barone, Winnie Xin, Marcy E. MacDonald, Jose E. Abdenur, Mark J. Daly, Katherine B. Sims, Susan L. Cotman

Am J Hum Genet. 2012 Jul 13; 91(1): 202–208. doi: 10.1016/j.ajhg.2012.05.023

PMCID:: PMC3397260

Abstract Article PDF–507K

Select item 62954194.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect

Kyle A Metz, Xinchen Teng, Isabelle Coppens, Heather M. Lamb, Bart E. Wagner, Jill A. Rosenfeld, Xianghui Chen, Yu Zhang, Hee Jong Kim, Michael E. Meadow, Tim Sen Wang, Edda D. Haberlandt, Glenn W. Anderson, Esther Leshinsky-Silver, Weimin Bi, Thomas C. Markello, Marsha Pratt, Nawal Makhseed, Adolfo Garnica, Noelle R. Danylchuk, Thomas A. Burrow, Parul Jayakar, Dianalee McKnight, Satish Agadi, Hatha Gbedawo, Christine Stanley, Michael Alber, Isabelle Prehl, Katrina Peariso, Min Tsui Ong, Santosh R Mordekar, Michael J Parker, Daniel Crooks, Pankaj B. Agrawal, Gerard T. Berry, Tobias Loddenkemper, Yaping Yang, Gustavo H.B. Maegawa, Abdel Aouacheria, Janet G. Markle, James A. Wohlschlegel, Adam L. Hartman, J. Marie Hardwick

Ann Neurol. Author manuscript; available in PMC 2019 Nov 8.

Published in final edited form as: Ann Neurol. 2018 Nov; 84(5): 766–780. Published online 2018 Nov 8. doi: 10.1002/ana.25351

PMCID:: PMC6295419

Abstract Article PDF–4.4M

Select item 41981155.

Exome Sequencing Is an Efficient Tool for Variant Late-Infantile Neuronal Ceroid Lipofuscinosis Molecular Diagnosis

Liliana Catherine Patiño, Rajani Battu, Oscar Ortega-Recalde, Jeyabalan Nallathambi, Venkata Ramana Anandula, Umashankar Renukaradhya, Paul Laissue

PLoS One. 2014; 9(10): e109576. Published online 2014 Oct 15. doi: 10.1371/journal.pone.0109576

PMCID:: PMC4198115

Abstract Article PDF–790K

Select item 85385466.

Patient-Derived Induced Pluripotent Stem Cell Models for Phenotypic Screening in the Neuronal Ceroid Lipofuscinoses

Ahmed Morsy, Angelica V. Carmona, Paul C. Trippier

Molecules. 2021 Oct; 26(20): 6235. Published online 2021 Oct 15. doi: 10.3390/molecules26206235

PMCID:: PMC8538546

Abstract Article PDF–464K

Select item 74925987.

Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis

Sukun Luo, Bo Bi, Baiqi Zhu, Li Tan, Peiwei Zhao, Yufeng Huang, Gefei Wu, Aifeng Zhou, Xuelian He

Front Genet. 2020; 11: 536221. Published online 2020 Sep 2. doi: 10.3389/fgene.2020.536221

PMCID:: PMC7492598

Abstract Article PDF–1.8M

Select item 45674818.

Genetics of the Neuronal Ceroid Lipofuscinoses (Batten disease)

Sara E Mole, Susan L. Cotman

Biochim Biophys Acta. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Biochim Biophys Acta. 2015 Oct; 1852(10 0 0): 2237–2241. Published online 2015 May 27. doi: 10.1016/j.bbadis.2015.05.011

PMCID:: PMC4567481

Abstract Article PDF–242K

Select item 82324839.

Neuronal Ceroid Lipofuscinoses in Children

Mahesh Kamate, Narendranadha Reddy, Mayank Detroja, Virupaxi Hattiholi

Ann Indian Acad Neurol. 2021 Mar-Apr; 24(2): 192–197. Published online 2021 Apr 28. doi: 10.4103/aian.AIAN_61_20

PMCID:: PMC8232483

Abstract Article PDF–876K

Select item 394307710.

NCL Disorders: Frequent Causes of Childhood Dementia

Angela SCHULZ, Alfried KOHLSCHÜTTER

Iran J Child Neurol. 2013 Winter; 7(1): 1–8.

PMCID:: PMC3943077

Abstract Article PDF–486K

Select item 664957811.

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic

Ann Clin Transl Neurol. 2019 Jul; 6(7): 1263–1272. Published online 2019 Jul 1. doi: 10.1002/acn3.50822

PMCID:: PMC6649578

Abstract Article PDF–882K

Select item 1068269912.

P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease

L. Kumarasinghe, M.A. Garcia-Gimeno, J. Ramirez, U. Mayor, JL. Zugaza, P Sanz

Neurobiol Dis. Author manuscript; available in PMC 2023 Nov 28.

Published in final edited form as: Neurobiol Dis. 2023 Feb; 177: 105998. Published online 2023 Jan 10. doi: 10.1016/j.nbd.2023.105998

PMCID:: PMC10682699

Abstract Article PDF–1.7M

Select item 1089760113.

Opening the K_V3.1 gates: A therapeutic strategy for progressive myoclonus epilepsy type 7?

Maria A. Gandini, Gerald W. Zamponi

Cell Rep Med. 2024 Feb 20; 5(2): 101425. Published online 2024 Feb 20. doi: 10.1016/j.xcrm.2024.101425

PMCID:: PMC10897601

Abstract Article PDF–1.8M

Select item 737903714.

Brain proton magnetic resonance spectroscopy findings in a Beagle dog with genetically confirmed Lafora disease

Neringa Alisauskaite, Katrin Beckmann, Matthias Dennler, Niklaus Zölch

J Vet Intern Med. 2020 Jul; 34(4): 1594–1598. Published online 2020 May 17. doi: 10.1111/jvim.15799

PMCID:: PMC7379037

Abstract Article PDF–456K

Select item 728839515.

Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

Sofía Sánchez-Iglesias, Melissa Crocker, Mar O’Callaghan, Alejandra Darling, Angels García-Cazorla, Rosario Domingo-Jiménez, Ana Castro, Antía Fernández-Pombo, Álvaro Ruibal, Pablo Aguiar, Miguel Garrido-Pumar, Antonio Rodríguez-Núñez, Julián Álvarez-Escudero, Rebecca J. Brown, David Araújo-Vilar

Neurogenetics. Author manuscript; available in PMC 2020 Jun 11.

Published in final edited form as: Neurogenetics. 2019 May; 20(2): 73–82. Published online 2019 Mar 23. doi: 10.1007/s10048-019-00574-5

PMCID:: PMC7288395

Abstract Article PDF–492K

Select item 725168316.

An elongated tract of polyQ in the carboxyl-terminus of human α1A calcium channel induces cell apoptosis by nuclear translocation

Ji Sun, Xiguang Sun, Zhuo Li, Dihui Ma, Yudan Lv

Oncol Rep. 2020 Jul; 44(1): 156–164. Published online 2020 Apr 22. doi: 10.3892/or.2020.7592

PMCID:: PMC7251683

Abstract Article PDF–1.1M

Select item 582485717.

Severe peri-ictal respiratory dysfunction is common in Dravet syndrome

YuJaung Kim, Eduardo Bravo, Caitlin K. Thirnbeck, Lori A. Smith-Mellecker, Se Hee Kim, Brian K. Gehlbach, Linda C. Laux, Xiuqiong Zhou, Douglas R. Nordli, Jr., George B. Richerson

J Clin Invest. 2018 Mar 1; 128(3): 1141–1153. Published online 2018 Feb 12. doi: 10.1172/JCI94999

PMCID:: PMC5824857

Abstract Article PDF–4.4M

Select item 634286818.

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss of an Exonic Splicing Enhancer

Rodolfo Tonin, Serena Catarzi, Anna Caciotti, Elena Procopio, Carla Marini, Renzo Guerrini, Amelia Morrone

J Neurol. 2019; 266(1): 92–101. Published online 2018 Oct 31. doi: 10.1007/s00415-018-9084-4

PMCID:: PMC6342868

Abstract Article PDF–1.5M

Select item 628134719.

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

John A. Damiano, Zaid Afawi, Melanie Bahlo, Monika Mauermann, Adel Misk, Todor Arsov, Karen L. Oliver, Hans-Henrik M. Dahl, A. Eliot Shearer, Richard J.H. Smith, Nathan E. Hall, Khalid Mahmood, Richard J. Leventer, Ingrid E. Scheffer, Mikko Muona, Anna-Elina Lehesjoki, Amos D. Korczyn, Harald Herrmann, Samuel F. Berkovic, Michael S. Hildebrand

Hum Mol Genet. 2015 Aug 15; 24(16): 4483–4490. Published online 2015 May 7. doi: 10.1093/hmg/ddv171

PMCID:: PMC6281347

Abstract Article PDF–557K

Select item 620259620.

Antimyoclonic Effect of Levetiracetam and Clonazepam Combined Treatment on Myoclonic Epilepsy with Ragged-Red Fiber Syndrome with m.8344A>G Mutation

Li-Jun Su, Yu-Liang Wang, Tao Han, Shan Qiao, Ke-Jun Zang, Huai-Kuan Wu, Yong-Xin Su, Ling-Ling Liu, Xue-Wu Liu

Chin Med J (Engl) 2018 Oct 20; 131(20): 2433–2438. doi: 10.4103/0366-6999.243568

PMCID:: PMC6202596

Abstract Article PDF–1020K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 500

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity