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1.
A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia.
Hum Mol Genet
; 32(7): 1152-1161, 2023 03 20.
Article
in English
| MEDLINE | ID: mdl-36336956
2.
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
3.
Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease.
Metab Brain Dis
; 38(2): 709-715, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36576693
4.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
; 88(5): 867-877, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32808683
5.
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
Mov Disord
; 36(6): 1342-1352, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33200489
6.
Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.
Mov Disord
; 35(1): 142-150, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31518459
7.
Palliative care in 9 children with neurodegeneration with brain iron accumulation.
Neurol Sci
; 41(3): 653-660, 2020 Mar.
Article
in English
| MEDLINE | ID: mdl-31758347
8.
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.
J Med Genet
; 55(6): 408-414, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29496980
9.
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
Am J Hum Genet
; 89(4): 543-50, 2011 Oct 07.
Article
in English
| MEDLINE | ID: mdl-21981780
10.
Mitochondrial protein associated neurodegeneration - case report.
Neurol Neurochir Pol
; 48(1): 81-4, 2014.
Article
in English
| MEDLINE | ID: mdl-24636776
11.
Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.
Pharmaceutics
; 15(1)2023 Jan 12.
Article
in English
| MEDLINE | ID: mdl-36678896
12.
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).
Mol Genet Metab
; 120(3): 278-287, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28034613
13.
Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex.
Epilepsia
; 52(1): 22-7, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21204819
14.
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.
Diagnostics (Basel)
; 11(2)2021 Feb 16.
Article
in English
| MEDLINE | ID: mdl-33669444
15.
Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12?
Parkinsonism Relat Disord
; 80: 15-18, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32932022
16.
Status dystonicus due to internal pulse generator depletion in a patient with primary generalized dystonia.
Mov Disord
; 29(2): 188-9, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-23868498
17.
Subthalamic and pallidal oscillatory activity in patients with Neurodegeneration with Brain Iron Accumulation type I (NBIA-I).
Clin Neurophysiol
; 130(4): 469-473, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30771723
18.
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
19.
Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation.
Eur J Paediatr Neurol
; 12(5): 427-30, 2008 Sep.
Article
in English
| MEDLINE | ID: mdl-18339564
20.
Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration.
Clin Neuroradiol
; 28(3): 385-392, 2018 Sep.
Article
in English
| MEDLINE | ID: mdl-28352978