Search details
1.
Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.
Brain
; 147(4): 1389-1398, 2024 Apr 04.
Article
in English
| MEDLINE | ID: mdl-37831662
2.
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Mov Disord
; 37(8): 1707-1718, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35699229
3.
Patient-reported, health economic and psychosocial outcomes in patients with Friedreich ataxia (PROFA): protocol of an observational study using momentary data assessments via mobile health app.
BMJ Open
; 13(8): e075736, 2023 08 01.
Article
in English
| MEDLINE | ID: mdl-37527887
4.
Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders.
Front Neurol
; 12: 629414, 2021.
Article
in English
| MEDLINE | ID: mdl-33935938
5.
Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)-An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA).
Front Neurol
; 12: 642228, 2021.
Article
in English
| MEDLINE | ID: mdl-33692746
6.
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.
Lancet Neurol
; 18(7): 631-642, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31202468
7.
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.
Neuromuscul Disord
; 27(9): 856-860, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28666572
8.
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.
Lancet Neurol
; 14(2): 174-82, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25566998
9.
Analysis of equivalent uniform dose (EUD) and conventional radiation treatment parameters after primary and re-irradiation of malignant glioma.
Radiat Oncol
; 8: 287, 2013 Dec 13.
Article
in English
| MEDLINE | ID: mdl-24330746
10.
Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.
J Neurol
; 264(3): 578-582, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-28054128
11.
Corrigendum to 'Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient' [Neuromuscular Disorders 27 (2017) 856-860].
Neuromuscul Disord
; 27(12): e1, 2017 12.
Article
in English
| MEDLINE | ID: mdl-29074295
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