Year |
Citation |
Score |
2020 |
Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, ... ... Elrick MJ, et al. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. American Journal of Human Genetics. PMID 32220290 DOI: 10.1016/J.Ajhg.2020.03.001 |
0.309 |
|
2016 |
Chung C, Elrick MJ, Dell'Orco JM, Qin ZS, Kalyana-Sundaram S, Chinnaiyan AM, Shakkottai VG, Lieberman AP. Heat Shock Protein Beta-1 Modifies Anterior to Posterior Purkinje Cell Vulnerability in a Mouse Model of Niemann-Pick Type C Disease. Plos Genetics. 12: e1006042. PMID 27152617 DOI: 10.1371/Journal.Pgen.1006042 |
0.699 |
|
2013 |
Elrick MJ, Lieberman AP. Autophagic dysfunction in a lysosomal storage disorder due to impaired proteolysis. Autophagy. 9: 234-5. PMID 23086309 DOI: 10.4161/Auto.22501 |
0.654 |
|
2012 |
Fu R, Yanjanin NM, Elrick MJ, Ware C, Lieberman AP, Porter FD. Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1. American Journal of Medical Genetics. Part A. 158: 2775-80. PMID 23023945 DOI: 10.1002/Ajmg.A.35395 |
0.675 |
|
2012 |
Elrick MJ, Yu T, Chung C, Lieberman AP. Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease. Human Molecular Genetics. 21: 4876-87. PMID 22872701 DOI: 10.1093/Hmg/Dds324 |
0.707 |
|
2010 |
Elrick MJ, Pacheco CD, Yu T, Dadgar N, Shakkottai VG, Ware C, Paulson HL, Lieberman AP. Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration. Human Molecular Genetics. 19: 837-47. PMID 20007718 DOI: 10.1093/Hmg/Ddp552 |
0.654 |
|
2009 |
Pacheco CD, Elrick MJ, Lieberman AP. Tau normal function influences Niemann-Pick type C disease pathogenesis in mice and modulates autophagy in NPC1-deficient cells. Autophagy. 5: 548-50. PMID 19332999 DOI: 10.4161/auto.5.4.8364 |
0.697 |
|
2009 |
Pacheco CD, Elrick MJ, Lieberman AP. Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis. Human Molecular Genetics. 18: 956-65. PMID 19074461 DOI: 10.1093/Hmg/Ddn423 |
0.679 |
|
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