| 1 |
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation? ( 29473051
)
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Roubertie A....Lenaers G.
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2018 |
| 2 |
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. ( 29395073
)
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Drecourt A....RAPtig A.
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2018 |
| 3 |
Botulinum Toxin-A Injection in the Treatment of Spasticity in a Infantile-Onset Neurodegeneration With Brain Iron Accumulation: A Case Report. ( 29765892
)
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2018 |
| 4 |
Neurodegeneration with brain iron accumulation. ( 29325618
)
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2018 |
| 5 |
Visual and ocular motor function in the atypical form of neurodegeneration with brain iron accumulation type I. ( 28487376
)
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Jesus-Ribeiro J...Janu?rio C
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2018 |
| 6 |
Neurodegeneration With Brain Iron Accumulation: A Novel Mutation in the Ceruloplasmin Gene. ( 30383083
)
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Stelten BML...Keizer K
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2018 |
| 7 |
Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing. ( 30392167
)
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Sparber P...Skoblov M
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2018 |
| 8 |
Classification and molecular pathogenesis of NBIA syndromes. ( 29409688
)
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Di Meo I...Tiranti V
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2018 |
| 9 |
Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient. ( 29681108
)
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Willoughby J...Balasubramanian M
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2018 |
| 10 |
A new NBIA patient from Turkey with homozygous C19ORF12 mutation. ( 30298423
)
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Kasapkara ?S...Hayflick S
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2018 |
| 11 |
On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation. ( 28542792
)
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Tello C....EspinA^s C.
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2017 |
| 12 |
A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation. ( 28150420
)
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Vill K....Haack T.B.
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2017 |
| 13 |
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
)
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2017 |
| 14 |
Neurodegeneration with brain iron accumulation. ( 28987166
)
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2017 |
| 15 |
Extending the aceruloplasminemia phenotype: NBIA on imaging and acanthocytosis, yet only minor neurological findings. ( 28431603
)
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Kassubek R...Connemann BJ
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2017 |
| 16 |
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation. ( 28818478
)
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Dard R...Mochel F
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2017 |
| 17 |
Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories. ( 25870938
)
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Arber C.E....Wray S.
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2016 |
| 18 |
Neurodegeneration with brain iron accumulation (NBIA) formerly Hallervorden- Spatz disease. ( 27728536
)
|
Mehnaaz L.
|
2016 |
| 19 |
Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation. ( 27141409
)
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Kinghorn K.J....Castillo-Quan J.I.
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2016 |
| 20 |
Neurodegeneration with brain iron accumulation. ( 27487369
)
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Limongi J.C.
|
2016 |
| 21 |
Neurodegeneration with Brain Iron Accumulation. ( 26739693
)
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Schneider S.A.
|
2016 |
| 22 |
Severe early basal ganglia hypometabolism in neurodegeneration with brain iron accumulation. ( 26993314
)
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Mainta I.C....Garibotto V.
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2016 |
| 23 |
Neurodegeneration with brain iron accumulation presenting motor trick and impaired motor cortical plasticity. ( 26773698
)
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2016 |
| 24 |
Neurodegeneration with brain iron accumulation: A case report. ( 29213449
)
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2016 |
| 25 |
A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. ( 27487380
)
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2016 |
| 26 |
Down-regulation of coasy, the gene associated with NBIA-VI, reduces Bmp signaling, perturbs dorso-ventral patterning and alters neuronal development in zebrafish. ( 27892483
)
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Khatri D...Finazzi D
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2016 |
| 27 |
SCP2 mutations and neurodegeneration with brain iron accumulation. ( 26497993
)
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Horvath R....Chinnery P.F.
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2015 |
| 28 |
Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism. ( 25413956
)
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Vroegindeweij L.H....Langendonk J.G.
|
2015 |
| 29 |
Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases. ( 25668476
)
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Aoun M....Tiranti V.
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2015 |
| 30 |
Self-Mutilation in Neurodegeneration with Brain Iron Accumulation. ( 26120159
)
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Chandra S.R....Issac T.G.
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2015 |
| 31 |
Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. ( 25592411
)
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Tschentscher A....Hoffjan S.
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2015 |
| 32 |
Role of A^a8,F-FDG PET imaging in paediatric primary dystonia and dystonia arising from neurodegeneration with brain iron accumulation. ( 25646707
)
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2015 |
| 33 |
Neurodegeneration with brain iron accumulation: diagnosis and management. ( 25614780
)
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2015 |
| 34 |
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation. ( 25962551
)
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2015 |
| 35 |
Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms. ( 25973518
)
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2015 |
| 36 |
Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron. ( 25300979
)
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Colombelli C...Tiranti V
|
2015 |
| 37 |
Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis. ( 25545045
)
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Amaral LL...Bag AK
|
2015 |
| 38 |
Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation. ( 24522175
)
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Khan A.O....Salih M.A.
|
2014 |
| 39 |
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. ( 24360804
)
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Dusi S....Tiranti V.
|
2014 |
| 40 |
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
)
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2014 |
| 41 |
Proceedings of the third joint symposium on neuroacanthocytosis and neurodegeneration with brain iron accumulation: from benchside to bedside. ( 25621189
)
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2014 |
| 42 |
Neurodegeneration with brain iron accumulation: an overview. ( 25657764
)
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2014 |
| 43 |
Neurodegeneration with brain iron accumulation in an eleven-year-old jamaican male. ( 24600523
)
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Johnson P...Greenaway E
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2014 |
| 44 |
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms. ( 24847269
)
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Levi S...Finazzi D
|
2014 |
| 45 |
Adult-onset case of undiagnosed neurodegeneration with brain iron accumulation with psychotic symptoms. ( 24963432
)
|
Attademo L...Moretti P
|
2014 |
| 46 |
Update on neurodegeneration with brain iron accumulation. ( 24981186
)
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Pop?awska-Domaszewicz K...Kozubski W
|
2014 |
| 47 |
Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes. ( 25110004
)
|
Venco P...Tiranti V
|
2014 |
| 48 |
Neurodegeneration with brain iron accumulation disorder mimics autism. ( 25456304
)
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Veeravigrom M...Pongpunlert W
|
2014 |
| 49 |
Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation. ( 23494994
)
|
Goldman J.G....Hayflick S.J.
|
2013 |
| 50 |
Psychotic Disorder in Neurodegeneration with Brain Iron Accumulation. ( 24047758
)
|
Yazar M.S....Alpkan L.
|
2013 |
