Boura I, Giannopoulou I, Pavlaki V, Xiromerisiou G, Mitsias P, Spanaki C
Genes (Basel). 2024; 15(10).
PMID: 39457468
PMC: 11507139.
DOI: 10.3390/genes15101344.
Landoulsi Z, Ashok Kumar Sreelatha A, Schulte C, Bobbili D, Montanucci L, Leu C
medRxiv. 2024; .
PMID: 39228715
PMC: 11370542.
DOI: 10.1101/2024.08.21.24311915.
Dey B, Kumar A, Patel A
Curr Neuropharmacol. 2023; 22(11):1778-1806.
PMID: 37622689
PMC: 11284732.
DOI: 10.2174/1570159X21666230824091601.
Bagyinszky E, Hulme J, An S
Cells. 2023; 12(15).
PMID: 37566027
PMC: 10417729.
DOI: 10.3390/cells12151948.
Yilihamu M, Liu X, Liu X, Chen Y, Fan D
Front Neurol. 2022; 13:984866.
PMID: 36090855
PMC: 9448896.
DOI: 10.3389/fneur.2022.984866.
Roles of PIKfyve in multiple cellular pathways.
Rivero-Rios P, Weisman L
Curr Opin Cell Biol. 2022; 76:102086.
PMID: 35584589
PMC: 9108489.
DOI: 10.1016/j.ceb.2022.102086.
Novel Variants in the Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression.
Liu C, Lin J, Feng S, Che C, Huang H, Zou Z
J Clin Neurol. 2022; 18(1):41-47.
PMID: 35021275
PMC: 8762508.
DOI: 10.3988/jcn.2022.18.1.41.
The MUC6/AP2A2 Locus and Its Relevance to Alzheimer's Disease: A Review.
Nelson P, Fardo D, Katsumata Y
J Neuropathol Exp Neurol. 2020; 79(6):568-584.
PMID: 32357373
PMC: 7241941.
DOI: 10.1093/jnen/nlaa024.
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: , , and Variants Account for 3% of Rare Genetic Forms.
Pensato V, Magri S, Bella E, Tannorella P, Bersano E, Soraru G
J Clin Med. 2020; 9(2).
PMID: 32028661
PMC: 7073901.
DOI: 10.3390/jcm9020412.
Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.
Michaelidou K, Tsiverdis I, Erimaki S, Papadimitriou D, Amoiridis G, Papadimitriou A
Mol Genet Genomic Med. 2020; 8(4):e1141.
PMID: 32022442
PMC: 7196464.
DOI: 10.1002/mgg3.1141.
ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?.
Mejzini R, Flynn L, Pitout I, Fletcher S, Wilton S, Akkari P
Front Neurosci. 2019; 13:1310.
PMID: 31866818
PMC: 6909825.
DOI: 10.3389/fnins.2019.01310.
Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.
Martin P, Hicks A, Holbrook S, Cox G
Brain Res. 2019; 1727:146532.
PMID: 31678418
PMC: 6939129.
DOI: 10.1016/j.brainres.2019.146532.
The expanding spectrum of neurological disorders of phosphoinositide metabolism.
Volpatti J, Al-Maawali A, Smith L, Al-Hashim A, Brill J, Dowling J
Dis Model Mech. 2019; 12(8).
PMID: 31413155
PMC: 6737944.
DOI: 10.1242/dmm.038174.
Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.
Shisheva A, Sbrissa D, Hu B, Li J
Mol Neurobiol. 2019; 56(12):8656-8667.
PMID: 31313076
DOI: 10.1007/s12035-019-01693-8.
Protective role of the lipid phosphatase Fig4 in the adult nervous system.
Mironova Y, Lin J, Kalinski A, Huffman L, Lenk G, Havton L
Hum Mol Genet. 2018; 27(14):2443-2453.
PMID: 29688489
PMC: 6030899.
DOI: 10.1093/hmg/ddy145.