| 1 |
Aceruloplasminemia: Neurodegeneration with brain iron accumulation 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 |
Disease-specific patterns of basal ganglia neuronal activity in Neurodegeneration with Brain Iron Accumulation type I (NBIA-1). ( 30978626
)
|
McClelland VM...Lin JP
|
2019 |
| 5 |
Visual and ocular motor function in the atypical form of neurodegeneration with brain iron accumulation type I. ( 28487376
)
|
Jesus-Ribeiro J...Janu?rio C
|
2018 |
| 6 |
On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation. ( 28542792
)
|
Tello C...Espin?s C
|
2018 |
| 7 |
Neurodegeneration with brain iron accumulation. ( 29325618
)
|
Hayflick SJ...Hogarth P
|
2018 |
| 8 |
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. ( 29395073
)
|
Drecourt A...R?tig A
|
2018 |
| 9 |
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation? ( 29473051
)
|
Roubertie A...Lenaers G
|
2018 |
| 10 |
Botulinum Toxin-A Injection in the Treatment of Spasticity in a Infantile-Onset Neurodegeneration With Brain Iron Accumulation: A Case Report. ( 29765892
)
|
Do HK...Kim WJ
|
2018 |
| 11 |
Neurodegeneration With Brain Iron Accumulation: A Novel Mutation in the Ceruloplasmin Gene. ( 30383083
)
|
Stelten BML...Keizer K
|
2018 |
| 12 |
Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing. ( 30392167
)
|
Sparber P...Skoblov M
|
2018 |
| 13 |
Classification and molecular pathogenesis of NBIA syndromes. ( 29409688
)
|
Di Meo I...Tiranti V
|
2018 |
| 14 |
Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient. ( 29681108
)
|
Willoughby J...Balasubramanian M
|
2018 |
| 15 |
A new NBIA patient from Turkey with homozygous C19ORF12 mutation. ( 30298423
)
|
Kasapkara ?S...Hayflick S
|
2018 |
| 16 |
Extending the aceruloplasminemia phenotype: NBIA on imaging and acanthocytosis, yet only minor neurological findings. ( 28431603
)
|
Kassubek R...Connemann BJ
|
2017 |
| 17 |
Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series. ( 30838262
)
|
Brugger F...Bhatia KP
|
2017 |
| 18 |
A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation. ( 28150420
)
|
Vill K...Haack TB
|
2017 |
| 19 |
Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA). ( 28643035
)
|
Hattingen E...Kukuk GM
|
2017 |
| 20 |
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 |
| 21 |
Neurodegeneration with brain iron accumulation. ( 28987166
)
|
Wiethoff S...Houlden H
|
2017 |
| 22 |
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. ( 28612835
)
|
Herebian D...Distelmaier F
|
2017 |
| 23 |
Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories. ( 25870938
)
|
Arber CE...Wray S
|
2016 |
| 24 |
Neurodegeneration with Brain Iron Accumulation. ( 26739693
)
|
Schneider SA
|
2016 |
| 25 |
Neurodegeneration with brain iron accumulation presenting motor trick and impaired motor cortical plasticity. ( 26773698
)
|
Chen KH...Lu MK
|
2016 |
| 26 |
Severe early basal ganglia hypometabolism in neurodegeneration with brain iron accumulation. ( 26993314
)
|
Mainta IC...Garibotto V
|
2016 |
| 27 |
Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation. ( 27141409
)
|
Kinghorn KJ...Castillo-Quan JI
|
2016 |
| 28 |
Neurodegeneration with brain iron accumulation. ( 27487369
)
|
Limongi JC
|
2016 |
| 29 |
A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. ( 27487380
)
|
Salom?o RP...Barsottini OG
|
2016 |
| 30 |
Psychotic Disorder in Neurodegeneration with Brain Iron Accumulation. ( 27732100
)
|
Yazar MS...Alpkan L
|
2016 |
| 31 |
Neurodegeneration with brain iron accumulation: A case report. ( 29213449
)
|
Nassif D...Faria A
|
2016 |
| 32 |
Mutational analysis of COASY in an Italian patient with NBIA. ( 27021474
)
|
Annesi G...Quattrone A
|
2016 |
| 33 |
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 |
| 34 |
Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism. ( 25413956
)
|
Vroegindeweij LH...Langendonk JG
|
2015 |
| 35 |
Role of ¹⁸F-FDG PET imaging in paediatric primary dystonia and dystonia arising from neurodegeneration with brain iron accumulation. ( 25646707
)
|
Szyszko TA...Lin JP
|
2015 |
| 36 |
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 |
| 37 |
Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron. ( 25300979
)
|
Colombelli C...Tiranti V
|
2015 |
| 38 |
Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis. ( 25545045
)
|
Amaral LL...Bag AK
|
2015 |
| 39 |
Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. ( 25592411
)
|
Tschentscher A...Hoffjan S
|
2015 |
| 40 |
Neurodegeneration with brain iron accumulation: diagnosis and management. ( 25614780
)
|
Hogarth P
|
2015 |
| 41 |
Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases. ( 25668476
)
|
Aoun M...Tiranti V
|
2015 |
| 42 |
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation. ( 25962551
)
|
Gagliardi M...Quattrone A
|
2015 |
| 43 |
Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms. ( 25973518
)
|
Meyer E...Hayflick SJ
|
2015 |
| 44 |
Self-Mutilation in Neurodegeneration with Brain Iron Accumulation. ( 26120159
)
|
Chandra SR...Issac TG
|
2015 |
| 45 |
SCP2 mutations and neurodegeneration with brain iron accumulation. ( 26497993
)
|
Horvath R...Chinnery PF
|
2015 |
| 46 |
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. ( 24360804
)
|
Dusi S...Tiranti V
|
2014 |
| 47 |
Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation. ( 24522175
)
|
Khan AO...Salih MA
|
2014 |
| 48 |
Neurodegeneration with brain iron accumulation in an eleven-year-old jamaican male. ( 24600523
)
|
Johnson P...Greenaway E
|
2014 |
| 49 |
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 GL
|
2014 |
| 50 |
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms. ( 24847269
)
|
Levi S...Finazzi D
|
2014 |
