| 1 |
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation? ( 29473051
)
|
Roubertie A....Lenaers G.
|
2018 |
| 2 |
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. ( 29395073
)
|
Drecourt A....RAPtig A.
|
2018 |
| 3 |
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 |
| 4 |
Neurodegeneration with brain iron accumulation. ( 29325618
)
|
Hayflick S.J....Hogarth P.
|
2018 |
| 5 |
On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation. ( 28542792
)
|
Tello C....EspinA^s C.
|
2017 |
| 6 |
A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation. ( 28150420
)
|
Vill K....Haack T.B.
|
2017 |
| 7 |
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 |
| 8 |
Neurodegeneration with brain iron accumulation. ( 28987166
)
|
Wiethoff S....Houlden H.
|
2017 |
| 9 |
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 |
| 10 |
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 |
| 11 |
Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories. ( 25870938
)
|
Arber C.E....Wray S.
|
2016 |
| 12 |
Neurodegeneration with brain iron accumulation (NBIA) formerly Hallervorden- Spatz disease. ( 27728536
)
|
Mehnaaz L.
|
2016 |
| 13 |
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 |
| 14 |
Neurodegeneration with brain iron accumulation. ( 27487369
)
|
Limongi J.C.
|
2016 |
| 15 |
Neurodegeneration with Brain Iron Accumulation. ( 26739693
)
|
Schneider S.A.
|
2016 |
| 16 |
Severe early basal ganglia hypometabolism in neurodegeneration with brain iron accumulation. ( 26993314
)
|
Mainta I.C....Garibotto V.
|
2016 |
| 17 |
Neurodegeneration with brain iron accumulation presenting motor trick and impaired motor cortical plasticity. ( 26773698
)
|
Chen K.H....Lu M.K.
|
2016 |
| 18 |
Neurodegeneration with brain iron accumulation: A case report. ( 29213449
)
|
Nassif D....Faria A.
|
2016 |
| 19 |
A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. ( 27487380
)
|
SalomALo R.P....Barsottini O.G.
|
2016 |
| 20 |
SCP2 mutations and neurodegeneration with brain iron accumulation. ( 26497993
)
|
Horvath R....Chinnery P.F.
|
2015 |
| 21 |
Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism. ( 25413956
)
|
Vroegindeweij L.H....Langendonk J.G.
|
2015 |
| 22 |
Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases. ( 25668476
)
|
Aoun M....Tiranti V.
|
2015 |
| 23 |
Self-Mutilation in Neurodegeneration with Brain Iron Accumulation. ( 26120159
)
|
Chandra S.R....Issac T.G.
|
2015 |
| 24 |
Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. ( 25592411
)
|
Tschentscher A....Hoffjan S.
|
2015 |
| 25 |
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 |
| 26 |
Neurodegeneration with brain iron accumulation: diagnosis and management. ( 25614780
)
|
Hogarth P.
|
2015 |
| 27 |
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation. ( 25962551
)
|
Gagliardi M....Quattrone A.
|
2015 |
| 28 |
Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms. ( 25973518
)
|
Meyer E....Hayflick S.J.
|
2015 |
| 29 |
Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation. ( 24522175
)
|
Khan A.O....Salih M.A.
|
2014 |
| 30 |
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. ( 24360804
)
|
Dusi S....Tiranti V.
|
2014 |
| 31 |
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 |
| 32 |
Proceedings of the third joint symposium on neuroacanthocytosis and neurodegeneration with brain iron accumulation: from benchside to bedside. ( 25621189
)
|
|
2014 |
| 33 |
Neurodegeneration with brain iron accumulation: an overview. ( 25657764
)
|
Tonekaboni S.H....Mollamohammadi M.
|
2014 |
| 34 |
Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation. ( 23494994
)
|
Goldman J.G....Hayflick S.J.
|
2013 |
| 35 |
Psychotic Disorder in Neurodegeneration with Brain Iron Accumulation. ( 24047758
)
|
Yazar M.S....Alpkan L.
|
2013 |
| 36 |
Teaching NeuroImages: neurodegeneration with brain iron accumulation in aceruloplasminemia. ( 24218322
)
|
Parks N.E....Moeller J.J.
|
2013 |
| 37 |
PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. ( 23166001
)
|
Dezfouli M.A....Elahi E.
|
2013 |
| 38 |
Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes. ( 24209433
)
|
Kurian M.A....Hayflick S.J.
|
2013 |
| 39 |
Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of I+-Mannosidosis. ( 23430902
)
|
Zoons E....Tijssen M.A.
|
2012 |
| 40 |
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. ( 22584950
)
|
Deschauer M....Haack T.B.
|
2012 |
| 41 |
Neurodegeneration with brain iron accumulation. ( 22691760
)
|
Dusek P....Schneider S.A.
|
2012 |
| 42 |
Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. ( 22743658
)
|
Kruer M.C....Houlden H.
|
2012 |
| 43 |
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation. ( 22704260
)
|
Panteghini C....Tiranti V.
|
2012 |
| 44 |
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. ( 21981780
)
|
Hartig M.B....Prokisch H.
|
2011 |
| 45 |
Coexistence of TDP-43 and tau pathology in neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome). ( 21276079
)
|
Haraguchi T....Uchitomi Y.
|
2011 |
| 46 |
Neurodegeneration with brain iron accumulation. ( 21496576
)
|
McNeill A....Chinnery P.F.
|
2011 |
| 47 |
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). ( 20853438
)
|
Kruer M.C....Hayflick S.J.
|
2010 |
| 48 |
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. ( 20310007
)
|
Schneider S.A....Bhatia K.P.
|
2010 |
| 49 |
Clinicopathological variability in neurodegeneration with brain iron accumulation. ( 20405671
)
|
Vincze A....KovA!cs G.G.
|
2010 |
| 50 |
Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential? ( 19147629
)
|
Schneider S.A....Bhatia K.P.
|
2009 |
