1 |
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
62
24
5
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Evers C...Moog U
|
28489334 |
2017 |
2 |
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
62
24
5
|
Dusi S...Tiranti V
|
24360804 |
2014 |
3 |
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
24
5
|
Gregory A...Hayflick SJ
|
31087512 |
2019 |
4 |
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
62
5
|
Rattay TW...Schule R
|
31135052 |
2019 |
5 |
Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype.
62
5
|
Akcakaya NH...Yapici Z
|
31804703 |
2019 |
6 |
New genetic causes for complex hereditary spastic paraplegia.
62
5
|
Souza PVS...Oliveira ASB
|
28716262 |
2017 |
7 |
Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism.
62
5
|
Ceccatelli Berti C...Goffrini P
|
28357284 |
2015 |
8 |
Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35.
62
5
|
Marelli C...Koenig M
|
30713878 |
2015 |
9 |
PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.
62
5
|
Illingworth MA...Kurian MA
|
24745848 |
2014 |
10 |
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.
62
5
|
Deschauer M...Haack TB
|
22584950 |
2012 |
11 |
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations.
62
5
|
Paisan-Ruiz C...Houlden H
|
20619503 |
2012 |
12 |
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
62
5
|
Hartig MB...Prokisch H
|
21981780 |
2011 |
13 |
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism.
62
5
|
Engel LA...Kotzbauer PT
|
20886109 |
2010 |
14 |
R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family.
62
5
|
Sina F...Paisan-Ruiz C
|
19087156 |
2009 |
15 |
Neurodegeneration associated with genetic defects in phospholipase A(2).
62
5
|
Gregory A...Hayflick SJ
|
18799783 |
2008 |
16 |
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
62
5
|
Morgan NV...Hayflick SJ
|
16783378 |
2006 |
17 |
Clinical and molecular characterization of hereditary spastic paraplegia in a spanish Southern region.
5
|
Carrasco Salas P...Vazquez Rico I
|
33059505 |
2022 |
18 |
Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder.
5
|
Rochdi K...Krahn M
|
34852264 |
2022 |
19 |
Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias.
5
|
Wan N...Jiang H
|
34284285 |
2021 |
20 |
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
5
|
Hiraide T...Saitsu H
|
33644862 |
2021 |
21 |
Defective Lysosomal Lipid Catabolism as a Common Pathogenic Mechanism for Dementia.
5
|
Lee JY...Don AS
|
33550528 |
2021 |
22 |
New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family.
5
|
Toth-Bencsik R...Molnar MJ
|
34168672 |
2021 |
23 |
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
5
|
Stolarova L...Kleibl Z
|
33050356 |
2020 |
24 |
The natural history of infantile neuroaxonal dystrophy.
5
|
Altuame FD...Alkuraya FS
|
32357911 |
2020 |
25 |
Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.
5
|
Chu YT...Lin CH
|
32183746 |
2020 |
26 |
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
5
|
Cheema H...Rolfs A
|
33083013 |
2020 |
27 |
Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.
5
|
Dusek P...Schneider SA
|
31518459 |
2020 |
28 |
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.
5
|
Darling A...Perez-Duenas B
|
30340910 |
2019 |
29 |
Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl.
5
|
Jain S...Sharma S
|
31516627 |
2019 |
30 |
Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review.
5
|
Shen T...Zhang B
|
31496990 |
2019 |
31 |
PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.
5
|
Guo YP...Guo JF
|
30619057 |
2018 |
32 |
Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation.
5
|
Inzelberg R...Jordanova A
|
29966207 |
2018 |
33 |
PARK14 PLA2G6 mutants are defective in preventing rotenone-induced mitochondrial dysfunction, ROS generation and activation of mitochondrial apoptotic pathway.
5
|
Chiu CC...Wang HL
|
29108286 |
2017 |
34 |
Lessons from a pair of siblings with BPAN.
62
24
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Zarate YA...Kruer MC
|
26577041 |
2016 |
35 |
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.
5
|
Soehn AS...Schols L
|
27316240 |
2016 |
36 |
Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.
5
|
Davids M...Toro C
|
26668131 |
2016 |
37 |
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.
5
|
Kapoor S...Kumar A
|
27196560 |
2016 |
38 |
PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.
5
|
Giri A...Simon-Sanchez J
|
27127721 |
2016 |
39 |
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.
5
|
Yamamoto T...Kobayashi K
|
27081553 |
2015 |
40 |
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.
5
|
Romani M...Gouider-Khouja N
|
25164370 |
2015 |
41 |
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
62
24
|
Hogarth P...Hayflick SJ
|
23269600 |
2013 |
42 |
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
62
24
|
Haack TB...Hayflick SJ
|
23176820 |
2012 |
43 |
Neuroimaging features of neurodegeneration with brain iron accumulation.
62
24
|
Kruer MC...Hayflick SJ
|
21920862 |
2012 |
44 |
Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.
5
|
Ugolino J...Monteiro MJ
|
21665991 |
2011 |
45 |
Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.
62
24
|
Bruggemann N...Klein C
|
21060012 |
2010 |
46 |
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
62
24
|
Kruer MC...Hayflick SJ
|
20853438 |
2010 |
47 |
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.
62
24
|
Schneider SA...Bhatia KP
|
20310007 |
2010 |
48 |
Infantile neuroaxonal dystrophy: what's most important for the diagnosis?
5
|
Carrilho I...Barbot C
|
18359254 |
2008 |
49 |
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.
5
|
Ramirez A...Kubisch C
|
16964263 |
2006 |
50 |
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).
24
|
Hogarth P...Hayflick SJ
|
28034613 |
2017 |