| 1 |
Aceruloplasminemia: Neurodegeneration with Brain Iron Accumulation (NBIA) associated with psychosis. ( 30671987
)
|
Vroegindeweij LHP...Langendonk JG
|
2019 |
| 2 |
Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition. ( 30744104
)
|
Levi S...Tiranti V
|
2019 |
| 3 |
Subthalamic and pallidal oscillatory activity in patients with Neurodegeneration with Brain Iron Accumulation type I (NBIA-I). ( 30771723
)
|
Huebl J...K?hn AA
|
2019 |
| 4 |
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation? ( 29473051
)
|
Roubertie A....Lenaers G.
|
2018 |
| 5 |
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. ( 29395073
)
|
Drecourt A....RAPtig A.
|
2018 |
| 6 |
Botulinum Toxin-A Injection in the Treatment of Spasticity in a Infantile-Onset Neurodegeneration With Brain Iron Accumulation: A Case Report. ( 29765892
)
|
Do H.K....Kim W.J.
|
2018 |
| 7 |
Neurodegeneration with brain iron accumulation. ( 29325618
)
|
Hayflick S.J....Hogarth P.
|
2018 |
| 8 |
Neurodegeneration With Brain Iron Accumulation: A Novel Mutation in the Ceruloplasmin Gene. ( 30383083
)
|
Stelten BML...Keizer K
|
2018 |
| 9 |
Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing. ( 30392167
)
|
Sparber P...Skoblov M
|
2018 |
| 10 |
Classification and molecular pathogenesis of NBIA syndromes. ( 29409688
)
|
Di Meo I...Tiranti V
|
2018 |
| 11 |
Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient. ( 29681108
)
|
Willoughby J...Balasubramanian M
|
2018 |
| 12 |
A new NBIA patient from Turkey with homozygous C19ORF12 mutation. ( 30298423
)
|
Kasapkara ?S...Hayflick S
|
2018 |
| 13 |
On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation. ( 28542792
)
|
Tello C....EspinA^s C.
|
2017 |
| 14 |
A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation. ( 28150420
)
|
Vill K....Haack T.B.
|
2017 |
| 15 |
Clinical and Imaging Presentation of aA Patient with Beta-Propeller Protein-Associated Neurodegeneration, aA Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA). ( 28643035
)
|
Hattingen E....Kukuk G.M.
|
2017 |
| 16 |
Neurodegeneration with brain iron accumulation. ( 28987166
)
|
Wiethoff S....Houlden H.
|
2017 |
| 17 |
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation. ( 28818478
)
|
Dard R....Mochel F.
|
2017 |
| 18 |
Visual and ocular motor function in the atypical form of neurodegeneration with brain iron accumulation type I. ( 28487376
)
|
Jesus-Ribeiro J....JanuA!rio C.
|
2017 |
| 19 |
Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series. ( 30838262
)
|
Brugger F...Bhatia KP
|
2017 |
| 20 |
Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories. ( 25870938
)
|
Arber C.E....Wray S.
|
2016 |
| 21 |
Neurodegeneration with brain iron accumulation (NBIA) formerly Hallervorden- Spatz disease. ( 27728536
)
|
Mehnaaz L.
|
2016 |
| 22 |
Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation. ( 27141409
)
|
Kinghorn K.J....Castillo-Quan J.I.
|
2016 |
| 23 |
Neurodegeneration with brain iron accumulation. ( 27487369
)
|
Limongi J.C.
|
2016 |
| 24 |
Neurodegeneration with Brain Iron Accumulation. ( 26739693
)
|
Schneider S.A.
|
2016 |
| 25 |
Severe early basal ganglia hypometabolism in neurodegeneration with brain iron accumulation. ( 26993314
)
|
Mainta I.C....Garibotto V.
|
2016 |
| 26 |
Neurodegeneration with brain iron accumulation presenting motor trick and impaired motor cortical plasticity. ( 26773698
)
|
Chen K.H....Lu M.K.
|
2016 |
| 27 |
Neurodegeneration with brain iron accumulation: A case report. ( 29213449
)
|
Nassif D....Faria A.
|
2016 |
| 28 |
A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. ( 27487380
)
|
SalomALo R.P....Barsottini O.G.
|
2016 |
| 29 |
Down-regulation of coasy, the gene associated with NBIA-VI, reduces Bmp signaling, perturbs dorso-ventral patterning and alters neuronal development in zebrafish. ( 27892483
)
|
Khatri D...Finazzi D
|
2016 |
| 30 |
SCP2 mutations and neurodegeneration with brain iron accumulation. ( 26497993
)
|
Horvath R....Chinnery P.F.
|
2015 |
| 31 |
Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism. ( 25413956
)
|
Vroegindeweij L.H....Langendonk J.G.
|
2015 |
| 32 |
Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases. ( 25668476
)
|
Aoun M....Tiranti V.
|
2015 |
| 33 |
Self-Mutilation in Neurodegeneration with Brain Iron Accumulation. ( 26120159
)
|
Chandra S.R....Issac T.G.
|
2015 |
| 34 |
Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. ( 25592411
)
|
Tschentscher A....Hoffjan S.
|
2015 |
| 35 |
Role of A^a8,F-FDG PET imaging in paediatric primary dystonia and dystonia arising from neurodegeneration with brain iron accumulation. ( 25646707
)
|
Szyszko T.A....Lin J.P.
|
2015 |
| 36 |
Neurodegeneration with brain iron accumulation: diagnosis and management. ( 25614780
)
|
Hogarth P.
|
2015 |
| 37 |
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation. ( 25962551
)
|
Gagliardi M....Quattrone A.
|
2015 |
| 38 |
Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms. ( 25973518
)
|
Meyer E....Hayflick S.J.
|
2015 |
| 39 |
Chronic GM1 Gangliosidosis with Characteristic "Wish Bone Sign" on Brain MRI. Another Type of Neurodegeneration with Brain Iron Accumulation? ( 30838236
)
|
Hajirnis O...Udwadia-Hegde A
|
2015 |
| 40 |
Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron. ( 25300979
)
|
Colombelli C...Tiranti V
|
2015 |
| 41 |
Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis. ( 25545045
)
|
Amaral LL...Bag AK
|
2015 |
| 42 |
Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation. ( 24522175
)
|
Khan A.O....Salih M.A.
|
2014 |
| 43 |
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. ( 24360804
)
|
Dusi S....Tiranti V.
|
2014 |
| 44 |
Efficacy and safety of deferiprone for the treatment of pantothenate kinase-associated neurodegeneration (PKAN) and neurodegeneration with brain iron accumulation (NBIA): results from a four years follow-up. ( 24661465
)
|
Cossu G....Forni G.L.
|
2014 |
| 45 |
Proceedings of the third joint symposium on neuroacanthocytosis and neurodegeneration with brain iron accumulation: from benchside to bedside. ( 25621189
)
|
|
2014 |
| 46 |
Neurodegeneration with brain iron accumulation: an overview. ( 25657764
)
|
Tonekaboni S.H....Mollamohammadi M.
|
2014 |
| 47 |
Neurodegeneration with brain iron accumulation in an eleven-year-old jamaican male. ( 24600523
)
|
Johnson P...Greenaway E
|
2014 |
| 48 |
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms. ( 24847269
)
|
Levi S...Finazzi D
|
2014 |
| 49 |
Adult-onset case of undiagnosed neurodegeneration with brain iron accumulation with psychotic symptoms. ( 24963432
)
|
Attademo L...Moretti P
|
2014 |
| 50 |
Update on neurodegeneration with brain iron accumulation. ( 24981186
)
|
Pop?awska-Domaszewicz K...Kozubski W
|
2014 |
