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For: Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain 2021;144:2659-69. [PMID: 34415322 DOI: 10.1093/brain/awab124] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 5.0] [Reference Citation Analysis]
Number Citing Articles
1 Nanayakkara R, Gurung R, Rodgers SJ, Eramo MJ, Ramm G, Mitchell CA, Mcgrath MJ. Autophagic lysosome reformation in health and disease. Autophagy 2022. [DOI: 10.1080/15548627.2022.2128019] [Reference Citation Analysis]
2 Zhang K, Kang L, Zhang H, Bai L, Pang H, Liu Q, Zhang X, Chen D, Yu H, Lv Y, Gao M, Liu Y, Gai Z, Wang D, Li X. A synonymous mutation in PI4KA impacts the transcription and translation process of gene expression. Front Immunol 2022;13:987666. [DOI: 10.3389/fimmu.2022.987666] [Reference Citation Analysis]
3 Panza E, Meyyazhagan A, Orlacchio A. Hereditary spastic paraplegia: Genetic heterogeneity and common pathways. Exp Neurol 2022;357:114203. [PMID: 35970204 DOI: 10.1016/j.expneurol.2022.114203] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
4 Dafsari HS, Pemberton JG, Ferrer EA, Yammine T, Farra C, Mohammadi MH, Ghayoor Karimiani E, Hashemi N, Souaid M, Sabbagh S, Najarzadeh Torbati P, Khan S, Roze E, Moreno-De-Luca A, Bertoli-Avella AM, Houlden H, Balla T, Maroofian R. PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy. Ann Clin Transl Neurol 2022. [PMID: 35880319 DOI: 10.1002/acn3.51634] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
5 Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases. J Mol Diagn 2022;24:529-42. [PMID: 35569879 DOI: 10.1016/j.jmoldx.2022.02.003] [Reference Citation Analysis]
6 Gajardo T, Lô M, Bernard M, Leveau C, El-daher M, Kurowska M, Lay GL, Moshous D, Neven B, Fischer A, Ménasché G, de Saint Basile G, Vargas P, Sepulveda FE. Actin dynamics regulation by TTC7A/PI4KIIIα axis limits DNA damage and cell death during leukocyte migration.. [DOI: 10.1101/2021.10.14.464382] [Reference Citation Analysis]