Results 141 to 150 of about 3,353 (190)

Elovl1 inhibition reduced very long chain fatty acids in a mouse model of adrenoleukodystrophy. [PDF]

iScience
Huang JY, Freed B, Hanus M, Keefe K, Chiang MSR, Brezzani A, Luo Y, Li Y, Lam B, Holley S, Gans J, Dostalova Z, Tang B, Phaneuf C, Teeple E, Parisi L, Guo L, Zhao Z, Kinton SN, Dwyer J, Teixeira S, Ma H, Asmussen G, McLaren R, Wang D, Baker A, Siegel CS, Fink D, Randall K, Belenky A, Venugopal S, Gaglia G, Johnson J, Bangari DS, Zhang B, Michel A, Proto JD, Kloss A, Sardi SP, Gladysheva T, Kayatekin C.   +40 more
europepmc   +1 more source

Mitochondrial DNA copy number reduction via <i>in vitro TFAM</i> knockout remodels the nuclear epigenome and transcriptome. [PDF]

Epigenomics
Win PW, Nguyen J, Shin EH, Nagano TS, Selimi B, Hong K, Meybodi AM, Yates BP, Burke EV, Carter DE, Newby GA, Newcomb C, Arking DE, Castellani CA.   +13 more
europepmc   +1 more source

Differentiating Incidental From Pathologic Brain MRI Findings in Asymptomatic Boys With X-Linked Adrenoleukodystrophy: A Multicenter Study. [PDF]

Neurology
Srivastava IN, Kim DHJ, Gauna J, Videbæk C, Corwin N, Chang S, Cheng J, Dahmoush H, Loes DJ, Mallack EJ, Van Haren KP.   +10 more
europepmc   +1 more source

Fulminant Adrenal Crisis as the Initial Healthcare System Presentation of Adolescent Cerebral X-Linked Adrenoleukodystrophy. [PDF]

CNS Neurosci Ther
Zhou J, Meng W, Zhao W, Shen C.
europepmc   +1 more source

A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms. [PDF]

NPJ Genom Med
Chapleau A, Perrier S, Durcan TM, Bernard G.   +3 more
europepmc   +1 more source

APC-rearranged solid pseudopapillary neoplasm-pancreatic neuroendocrine tumor collision tumor: a molecularly resolved case report. [PDF]

Front Oncol
Guan J, Lu Y, Zhang H, Huang W.
europepmc   +1 more source

Outcomes of an optimized ciclosporin-free haploidentical HSCT protocol in paediatric patients with cerebral adrenoleukodystrophy. [PDF]

Br J Haematol
Ye F, Fu B, Chen K, Xia X, Li Y, Wang L, Yang H, Deng W, Wang Z, Yang L.   +9 more
europepmc   +1 more source

Clinical and radiological characteristics of adult-onset X-linked adrenoleukodystrophy: a Chinese cohort study and review of the literature. [PDF]

BMC Neurol
Xiao H, Huang H, Chen Y, Luo Y, Tang Z, Tan X, Shi X, Wang C, Zhang H, Fang J, Tang J.   +10 more
europepmc   +1 more source

Optimization of the Performance of Newborn Screening for X-Linked Adrenoleukodystrophy by Flow Injection Analysis Tandem Mass Spectrometry. [PDF]

Int J Neonatal Screen
Tang C, Tan M, Cai Y, Liu S, Xie T, Jiang X, Tao L, Huang Y, Tang F.   +8 more
europepmc   +1 more source