Results 101 to 110 of about 1,447 (169)

Childhood-onset neurodegeneration and brain atrophy: defining <i>UBTF</i>-related developmental regression and progressive ataxia. [PDF]

J Med Genet
Nagy A, Luddy A, Molay F, McLaughlin H, De La Rosa Abreu L, Becker C, Terrey M, Lutz CM, Gupta A, Eichler FS.   +9 more
europepmc   +1 more source

Generation and Characterization of Human iPSC-Derived Astrocytes with Potential for Modeling X-Linked Adrenoleukodystrophy Phenotypes. [PDF]

Int J Mol Sci
Kaur N, Singh J.
europepmc   +1 more source

Opioid-associated amnestic syndrome (OAS) following cerebellar hippocampal and basal nuclei transient edema with restricted diffusion (CHANTER) syndrome triggered by opioid overdose: A case report. [PDF]

Radiol Case Rep
Ichikawa Y, Isoda H, Sasaki M, Katayama M, Okuma S.   +4 more
europepmc   +1 more source

Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing. [PDF]

Genet Med
Dominguez Gonzalez CA, Spinner NB, Ahrens-Nicklas RC, Young LR, Voss LA, Reichert SL, Gallo DJ, Cohen JS, Bonkowsky JL, Keller SR, Bennett ML, Pizzino AM, Swantkowski M, Arnold K, Fraser JL, Emerson FJ, Miettunen K, Fatemi A, Van Haren KP, Adang L, Waldman A, Emrick L, Eichler F, Vanderver A.   +23 more
europepmc   +1 more source

An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs. [PDF]

Mol Ther Methods Clin Dev
Vasireddy V, Maguire CA, Anderson DW, Ng C, Gong Y, Eichler F, Fourcade S, Guilera C, Onieva A, Sanchez A, Leal-Julià M, Verdés S, Dijkstra IME, Kemp S, Park H, Lutz T, Clark SW, Bosch A, Pujol A, Kozarsky K.   +19 more
europepmc   +1 more source

Amyotrophic lateral sclerosis in a tricenarian female. [PDF]

Radiol Case Rep
Sood A, Mishra GV, Kar P, Khandelwal S, Gaur S, Manuja N.   +5 more
europepmc   +1 more source

Prognostication and Biomarker Potential of C26:0 Lysophosphatidylcholine in Adrenoleukodystrophy. [PDF]

JAMA Pediatr
Billington CJ, Rayannavar A, Tryon R, Kaye T, Gupta A, Lund TC, Lteif A, Adriatico KL, Orchard PJ, Miller BS, Pillai NR.   +10 more
europepmc   +1 more source

Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans. [PDF]

Ann Neurol
Gong Y, Laheji F, Berenson A, Li Y, Moser A, Qian A, Frosch M, Sadjadi R, Hahn R, Maguire CA, Eichler F.   +10 more
europepmc   +1 more source

A Case of Asymptomatic Lead Poisoning in a Two-Year-Old With a Background of Pica and Iron Deficiency Anaemia. [PDF]

Cureus
Ayub R, Hafiz IK, Ul-Haq A.
europepmc   +1 more source

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases. [PDF]

J Lipid Res
Sidorina A, Catesini G, Deodato F, Boenzi S, Martinelli D, Rizzo C, Dionisi-Vici C.   +6 more
europepmc   +1 more source