219 related articles for article (PubMed ID: 30392167)
21. 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]
22. Early manifestations of BPAN in a pediatric patient.
Okamoto N; Ikeda T; Hasegawa T; Yamamoto Y; Kawato K; Komoto T; Imoto I
Am J Med Genet A; 2014 Dec; 164A(12):3095-9. PubMed ID: 25263061
[TBL] [Abstract][Full Text] [Related]
23. Retinal and optic nerve abnormalities in neurodegeneration associated with mutations in C19orf12 (MPAN).
Langwinska-Wosko E; Skowronska M; Kmiec T; Czlonkowska A
J Neurol Sci; 2016 Nov; 370():237-240. PubMed ID: 27772766
[TBL] [Abstract][Full Text] [Related]
24. A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.
Vill K; Müller-Felber W; Alhaddad B; Strom TM; Teusch V; Weigand H; Blaschek A; Meitinger T; Haack TB
Mov Disord; 2017 May; 32(5):797-799. PubMed ID: 28150420
[No Abstract] [Full Text] [Related]
25. Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).
Schneider SA; Bhatia KP
J Neural Transm (Vienna); 2013 Apr; 120(4):695-703. PubMed ID: 23212724
[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. Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12?
Skowronska M; Buksinska-Lisik M; Kmiec T; Litwin T; Kurkowska-Jastrzębska I; Czlonkowska A
Parkinsonism Relat Disord; 2020 Nov; 80():15-18. PubMed ID: 32932022
[TBL] [Abstract][Full Text] [Related]
28. A new NBIA patient from Turkey with homozygous C19ORF12 mutation.
Kasapkara ÇS; Tümer L; Gregory A; Ezgü F; İnci A; Derinkuyu BE; Fox R; Rogers C; Hayflick S
Acta Neurol Belg; 2019 Dec; 119(4):623-625. PubMed ID: 30298423
[No Abstract] [Full Text] [Related]
29. Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation.
Araújo Salomão RP; Rezende Filho FM; Borges V; Kurian MA; Ferraz HB; Breedveld GJ; Bonifati V; Barsottini OG; Pedroso JL
Parkinsonism Relat Disord; 2024 Jun; 123():106103. PubMed ID: 38582019
[TBL] [Abstract][Full Text] [Related]
30. Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.
Dusek P; Mekle R; Skowronska M; Acosta-Cabronero J; Huelnhagen T; Robinson SD; Schubert F; Deschauer M; Els A; Ittermann B; Schottmann G; Madai VI; Paul F; Klopstock T; Kmiec T; Niendorf T; Wuerfel J; Schneider SA
Mov Disord; 2020 Jan; 35(1):142-150. PubMed ID: 31518459
[TBL] [Abstract][Full Text] [Related]
31. Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.
Schulte EC; Claussen MC; Jochim A; Haack T; Hartig M; Hempel M; Prokisch H; Haun-Jünger U; Winkelmann J; Hemmer B; Förschler A; Ilg R
Mov Disord; 2013 Feb; 28(2):224-7. PubMed ID: 23436634
[TBL] [Abstract][Full Text] [Related]
32. Transcranial sonography in mitochondrial membrane protein-associated neurodegeneration.
Skowronska M; Walter U; Kmiec T; Czlonkowska A
Parkinsonism Relat Disord; 2013 Nov; 19(11):1061-3. PubMed ID: 23871464
[No Abstract] [Full Text] [Related]
33. MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).
Kimura Y; Sato N; Sugai K; Maruyama S; Ota M; Kamiya K; Ito K; Nakata Y; Sasaki M; Sugimoto H
Brain Dev; 2013 May; 35(5):458-61. PubMed ID: 22892189
[TBL] [Abstract][Full Text] [Related]
34. A Novel Mutation in Neurodegeneration with Brain Iron Accumulation - A Case Report.
Nagarjunakonda S; Daggumati R; Uppala V; Gajula R; Amalakanti S
Neurol India; 2019; 67(5):1341-1343. PubMed ID: 31744972
[TBL] [Abstract][Full Text] [Related]
35. Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12.
Skowronska M; Kmiec T; Jurkiewicz E; Malczyk K; Kurkowska-Jastrzębska I; Czlonkowska A
Parkinsonism Relat Disord; 2017 Jun; 39():71-76. PubMed ID: 28347614
[TBL] [Abstract][Full Text] [Related]
36. Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up.
Mercan S; Ugur Iseri SA; Yigiter R; Akcakaya NH; Saka E; Yapici Z
Neurocase; 2022 Feb; 28(1):37-41. PubMed ID: 35188090
[TBL] [Abstract][Full Text] [Related]
37. The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.
Olgiati S; Doğu O; Tufekcioglu Z; Diler Y; Saka E; Gultekin M; Kaleagasi H; Kuipers D; Graafland J; Breedveld GJ; Quadri M; Sürmeli R; Sünter G; Doğan T; Yalçın AD; Bilgiç B; Elibol B; Emre M; Hanagasi HA; Bonifati V
Parkinsonism Relat Disord; 2017 Jun; 39():64-70. PubMed ID: 28347615
[TBL] [Abstract][Full Text] [Related]
38. Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life.
Gowda VK; Patil A; Srinivasan VM; Kathrani N
Indian J Pediatr; 2019 Aug; 86(8):746-748. PubMed ID: 30825065
[TBL] [Abstract][Full Text] [Related]
39. Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential?
Schneider SA; Hardy J; Bhatia KP
J Neurol Neurosurg Psychiatry; 2009 Jun; 80(6):589-90. PubMed ID: 19147629
[No Abstract] [Full Text] [Related]
40. Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.
Van Goethem G; Livingston JH; Warren D; Oojageer AJ; Rice GI; Crow YJ
Pediatr Neurol; 2014 Dec; 51(6):843-5. PubMed ID: 25301227
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
