193 related articles for article (PubMed ID: 23278385)
21. Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration.
Thomas M; Hayflick SJ; Jankovic J
Mov Disord; 2004 Jan; 19(1):36-42. PubMed ID: 14743358
[TBL] [Abstract][Full Text] [Related]
22. Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
Kurian MA; McNeill A; Lin JP; Maher ER
Dev Med Child Neurol; 2011 May; 53(5):394-404. PubMed ID: 21480873
[TBL] [Abstract][Full Text] [Related]
23. Behr syndrome with homozygous C19ORF12 mutation.
Kleffner I; Wessling C; Gess B; Korsukewitz C; Allkemper T; Schirmacher A; Young P; Senderek J; Husstedt IW
J Neurol Sci; 2015 Oct; 357(1-2):115-8. PubMed ID: 26187298
[TBL] [Abstract][Full Text] [Related]
24. A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN).
Al Macki N; Al Rashdi I
Oman Med J; 2017 Jan; 32(1):66-68. PubMed ID: 28042406
[TBL] [Abstract][Full Text] [Related]
25. C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.
Deschauer M; Gaul C; Behrmann C; Prokisch H; Zierz S; Haack TB
J Neurol; 2012 Nov; 259(11):2434-9. PubMed ID: 22584950
[TBL] [Abstract][Full Text] [Related]
26. Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
Kolarova H; Tan J; Strom TM; Meitinger T; Wagner M; Klopstock T
EBioMedicine; 2022 Mar; 77():103869. PubMed ID: 35180557
[TBL] [Abstract][Full Text] [Related]
27. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Rickman OJ; Salter CG; Gunning AC; Fasham J; Voutsina N; Leslie JS; McGavin L; Cross HE; Posey JE; Akdemir ZC; Jhangiani SN; Lupski JR; Baple EL; Crosby AH
Parkinsonism Relat Disord; 2021 Jan; 82():84-86. PubMed ID: 33260061
[TBL] [Abstract][Full Text] [Related]
28. C19orf12 mutation leads to a pallido-pyramidal syndrome.
Kruer MC; Salih MA; Mooney C; Alzahrani J; Elmalik SA; Kabiraj MM; Khan AO; Paudel R; Houlden H; Azzedine H; Alkuraya F
Gene; 2014 Mar; 537(2):352-6. PubMed ID: 24361204
[TBL] [Abstract][Full Text] [Related]
29. Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.
Goldman JG; Eichenseer SR; Berry-Kravis E; Zimnowodzki S; Gregory A; Hogarth P; Hayflick SJ
Mov Disord; 2013 Sep; 28(10):1462-3. PubMed ID: 23494994
[No Abstract] [Full Text] [Related]
30. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
Magen D; Georgopoulos C; Bross P; Ang D; Segev Y; Goldsher D; Nemirovski A; Shahar E; Ravid S; Luder A; Heno B; Gershoni-Baruch R; Skorecki K; Mandel H
Am J Hum Genet; 2008 Jul; 83(1):30-42. PubMed ID: 18571143
[TBL] [Abstract][Full Text] [Related]
31. Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation.
Lefter A; Mitrea I; Mitrea D; Plaiasu V; Bertoli-Avella A; Beetz C; Cozma L; Tulbă D; Mitu CE; Popescu BO
Neurocase; 2021 Dec; 27(6):481-483. PubMed ID: 34983316
[TBL] [Abstract][Full Text] [Related]
32. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
Chung KW; Kim SB; Park KD; Choi KG; Lee JH; Eun HW; Suh JS; Hwang JH; Kim WK; Seo BC; Kim SH; Son IH; Kim SM; Sunwoo IN; Choi BO
Brain; 2006 Aug; 129(Pt 8):2103-18. PubMed ID: 16835246
[TBL] [Abstract][Full Text] [Related]
33. A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration.
Chen HY; Lin HI; Hsu CL; Chen PL; Huang CY; Teng SC; Lin CH
Parkinsonism Relat Disord; 2023 Apr; 109():105353. PubMed ID: 36863113
[TBL] [Abstract][Full Text] [Related]
34. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Hogarth P; Gregory A; Kruer MC; Sanford L; Wagoner W; Natowicz MR; Egel RT; Subramony SH; Goldman JG; Berry-Kravis E; Foulds NC; Hammans SR; Desguerre I; Rodriguez D; Wilson C; Diedrich A; Green S; Tran H; Reese L; Woltjer RL; Hayflick SJ
Neurology; 2013 Jan; 80(3):268-75. PubMed ID: 23269600
[TBL] [Abstract][Full Text] [Related]
35. Mitochondrial protein associated neurodegeneration - case report.
Kłysz B; Skowrońska M; Kmieć T
Neurol Neurochir Pol; 2014; 48(1):81-4. PubMed ID: 24636776
[TBL] [Abstract][Full Text] [Related]
36. Neurodegeneration with brain iron accumulation--late onset slowly progressive variant.
Patil PV; Manakshe G; Mahajan DP; Solanke DB; Sakale T
J Assoc Physicians India; 2011 May; 59():319-21. PubMed ID: 21751611
[TBL] [Abstract][Full Text] [Related]
37. Reprogramming of a human induced pluripotent stem cell (iPSC) line from a patient with neurodegeneration with brain iron accumulation (NBIA) harboring a novel frameshift mutation in C19orf12 gene.
Lin HY; Ou-Yang CH; Lin CH
Stem Cell Res; 2020 Dec; 49():102032. PubMed ID: 33068888
[TBL] [Abstract][Full Text] [Related]
38. Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN).
Gore E; Appleby BS; Cohen ML; DeBrosse SD; Leverenz JB; Miller BL; Siedlak SL; Zhu X; Lerner AJ
Neurocase; 2016 Oct; 22(5):476-483. PubMed ID: 27801611
[TBL] [Abstract][Full Text] [Related]
39. Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases.
Aoun M; Tiranti V
Int J Biochem Cell Biol; 2015 Jun; 63():25-31. PubMed ID: 25668476
[TBL] [Abstract][Full Text] [Related]
40. A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone.
Chen S; Lai X; Fu J; Yang J; Zhao B; Shang H; Huang R; Chen X
BMC Neurol; 2023 Mar; 23(1):134. PubMed ID: 37004026
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
