Results 111 to 120 of about 4,338 (139)

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

Adrenomyeloneuropathy manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia: A case report and literature review. [PDF]

Medicine (Baltimore)
Chen Y, Li D, Xu P, Zhang A, Chen X, Chen Y.   +5 more
europepmc   +1 more source

Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research. [PDF]

Neurology
Yska HAF, Golse M, Galanaud D, Amartino HM, Bergner C, Bruschi F, Eichler FS, Fatemi A, García-Cazorla À, Gomez-Chiari M, Köhler W, Loes D, Lund T, Mallack EJ, Moscatelli M, Musolino PL, Nascene DR, Orthmann-Murphy JL, Parazzini C, Pouwels PJW, Ribeiro-Constante J, Roosendaal SD, Salsano E, Sgobbi PV, Sevin C, Smith Fine A, Tonduti D, Van Haren K, Zerem A, Engelen M, Mochel F.   +30 more
europepmc   +1 more source

Clinical Variation and Neuroimaging Patterns in Monozygotic Twins With Arrested X-Linked Adrenoleukodystrophy: A Case Report. [PDF]

Cureus
Leon TA, Nelson SM, Gilman A, Kluesner J, Williams JP.   +4 more
europepmc   +1 more source

Genetic analysis of the X-linked adrenoleukodystrophy gene ABCD1 in Drosophila uncovers a conserved phenotype. [PDF]

Commun Biol
Manor J, Jangam SV, Chung HL, Bhagwat P, Andrews JC, Chester H, Kondo S, Srivastav S, Botas J, Moser AB, Huguenin SM, Wangler MF.   +11 more
europepmc   +1 more source

Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy. [PDF]

Genes (Basel)
Bougnères P, Le Stunff C.
europepmc   +1 more source

Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1. [PDF]

Intern Med
Takegami N, Matsukawa T, Hamada M, Tanifuji S, Tamura T, Yamaguchi-Takegami N, Ishiura H, Mitsui J, Sakuishi K, Tsuji S, Toda T.   +10 more
europepmc   +1 more source

ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med
Lee K, Abul-Husn NS, Amendola LM, Brothers KB, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Li M, Ondrasik D, Richards CS, Stergachis A, Stewart DR, Martin CL, Miller DT, ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net.   +16 more
europepmc   +1 more source

Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions. [PDF]

J Child Neurol
Wright MA, Demmitt-Rice C, Van Haren KP, Lund TC, Eichler F, Bonkowsky JL.   +5 more
europepmc   +1 more source

Pathophysiology of X-Linked Adrenoleukodystrophy: Updates on Molecular Mechanisms. [PDF]

J Biotechnol Biomed
Parasar P, Kaur N, Singh J.
europepmc   +1 more source