Detalhe da pesquisa
1.
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.
Brain
; 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38489591
2.
Routine Screening for Peripartum Depression in the Gynecologic and Pediatric Setting - Evaluation of an Adapted EPDS Version.
Z Geburtshilfe Neonatol
; 227(3): 213-218, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36796423
3.
Cognitive Functions in Adult-Onset Phenotypes of X-Linked Adrenoleukodystrophy.
Ann Neurol
; 90(2): 266-273, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34105176
4.
Concurrent axon and myelin destruction differentiates X-linked adrenoleukodystrophy from multiple sclerosis.
Glia
; 69(10): 2362-2377, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34137074
5.
[Is the Quality Guideline of Care Delivery of Preterm and Mature Infants (QFR-RL) of the Federal Joint Committee (G-BA) a Quality Risk? - An Analysis of the Fulfillment Rate and the Consequences for Care Delivery to Other IC Patients and Imminent Premature Infants at a Regional Network of Perinatal Centers]. / Qualitätssicherungsrichtlinie Früh- und Reifgeborene des Gemeinsamen Bundesausschusses als Qualitätsrisiko?
Z Geburtshilfe Neonatol
; 224(5): 281-288, 2020 Oct.
Artigo
em Alemão
| MEDLINE | ID: mdl-32698223
6.
Allogeneic hematopoietic stem cell transplantation with myeloablative conditioning for adult cerebral X-linked adrenoleukodystrophy.
J Inherit Metab Dis
; 42(2): 313-324, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30746707
7.
Impaired plasticity of macrophages in X-linked adrenoleukodystrophy.
Brain
; 141(8): 2329-2342, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29860501
8.
Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy.
Brain
; 140(4): 953-966, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28375456
9.
Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes.
Brain
; 139(Pt 6): 1735-46, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27068048
10.
X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism is severely impaired in monocytes but not in lymphocytes.
Hum Mol Genet
; 23(10): 2542-50, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24363066
11.
Escalation Therapy of Steroid Refractory Multiple Sclerosis Relapse with Tryptophan Immunoadsorption - Observational Multicenter Study with 147 Patients.
Eur Neurol
; 75(5-6): 300-6, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27304890
12.
Hypomyelinating leukodystrophies: translational research progress and prospects.
Ann Neurol
; 76(1): 5-19, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24916848
13.
Self-reported quality of life in symptomatic and asymptomatic women with X-linked adrenoleukodystrophy.
Brain Behav
; 13(3): e2878, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36748403
14.
Case report: Treatment of advanced CSF1-receptor associated leukoencephalopathy with hematopoietic stem cell transplant.
Front Neurol
; 14: 1163107, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37292133
15.
Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.
Front Neurol
; 14: 1148377, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37077564
16.
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
Lancet Neurol
; 22(2): 127-136, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36681445
17.
Randomized Double-Blind Placebo-Controlled Trial of the Corticosteroid-Sparing Effects of Immunoglobulin in Myasthenia Gravis.
Neurology
; 100(7): e671-e682, 2023 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270895
18.
Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.
EBioMedicine
; 96: 104781, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37683329
19.
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
Neurology
; 99(21): 940-951, 2022 11 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36175155
20.
Megalencephalic leukoencephalopathy with cysts without MLC1 defect.
Ann Neurol
; 67(6): 834-7, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20517947