236 related articles for article (PubMed ID: 33417208)
21. Zellweger Syndrome: A Case Report.
Yogi P; Bahik C; Yadav R; Bhattarai P; Pandey R; Manandar SR
JNMA J Nepal Med Assoc; 2024 Feb; 62(270):155-157. PubMed ID: 38409970
[TBL] [Abstract][Full Text] [Related]
22. The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder.
Nuebel E; Morgan JT; Fogarty S; Winter JM; Lettlova S; Berg JA; Chen YC; Kidwell CU; Maschek JA; Clowers KJ; Argyriou C; Chen L; Wittig I; Cox JE; Roh-Johnson M; Braverman N; Bonkowsky J; Gygi SP; Rutter J
EMBO Rep; 2021 Oct; 22(10):e51991. PubMed ID: 34351705
[TBL] [Abstract][Full Text] [Related]
23. Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.
Lipiński P; Stawiński P; Rydzanicz M; Wypchło M; Płoski R; Stradomska TJ; Jurkiewicz E; Ferdinandusse S; Wanders RJA; Vaz FM; Tylki-Szymańska A
J Appl Genet; 2020 Feb; 61(1):87-91. PubMed ID: 31628608
[TBL] [Abstract][Full Text] [Related]
24. Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders.
Brosius U; Gärtner J
Cell Mol Life Sci; 2002 Jun; 59(6):1058-69. PubMed ID: 12169017
[TBL] [Abstract][Full Text] [Related]
25. Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease).
Warren M; Mierau G; Wartchow EP; Shimada H; Yano S
Ultrastruct Pathol; 2018; 42(3):220-227. PubMed ID: 29482424
[TBL] [Abstract][Full Text] [Related]
26. A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders.
Mast FD; Li J; Virk MK; Hughes SC; Simmonds AJ; Rachubinski RA
Dis Model Mech; 2011 Sep; 4(5):659-72. PubMed ID: 21669930
[TBL] [Abstract][Full Text] [Related]
27. Peroxisome biogenesis disorders.
Steinberg SJ; Dodt G; Raymond GV; Braverman NE; Moser AB; Moser HW
Biochim Biophys Acta; 2006 Dec; 1763(12):1733-48. PubMed ID: 17055079
[TBL] [Abstract][Full Text] [Related]
28. Longitudinal study of Pex1-G844D NMRI mouse model: A robust pre-clinical model for mild Zellweger spectrum disorder.
Demaret T; Roumain M; Ambroise J; Evraerts J; Ravau J; Bouzin C; Bearzatto B; Gala JL; Stepman H; Marie S; Vincent MF; Muccioli GG; Najimi M; Sokal EM
Biochim Biophys Acta Mol Basis Dis; 2020 Nov; 1866(11):165900. PubMed ID: 32693164
[TBL] [Abstract][Full Text] [Related]
29. Peroxisome Biogenesis Disorders.
Honsho M; Okumoto K; Tamura S; Fujiki Y
Adv Exp Med Biol; 2020; 1299():45-54. PubMed ID: 33417206
[TBL] [Abstract][Full Text] [Related]
30. Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes.
Soliman K; Göttfert F; Rosewich H; Thoms S; Gärtner J
Sci Rep; 2018 May; 8(1):7809. PubMed ID: 29773809
[TBL] [Abstract][Full Text] [Related]
31. PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.
Crane DI; Maxwell MA; Paton BC
Hum Mutat; 2005 Sep; 26(3):167-75. PubMed ID: 16086329
[TBL] [Abstract][Full Text] [Related]
32. Development and validation of a severity scoring system for Zellweger spectrum disorders.
Klouwer FCC; Meester-Delver A; Vaz FM; Waterham HR; Hennekam RCM; Poll-The BT
Clin Genet; 2018 Mar; 93(3):613-621. PubMed ID: 28857144
[TBL] [Abstract][Full Text] [Related]
33. Revisiting the neuropathogenesis of Zellweger syndrome.
Crane DI
Neurochem Int; 2014 Apr; 69():1-8. PubMed ID: 24607700
[TBL] [Abstract][Full Text] [Related]
34. The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.
Hiebler S; Masuda T; Hacia JG; Moser AB; Faust PL; Liu A; Chowdhury N; Huang N; Lauer A; Bennett J; Watkins PA; Zack DJ; Braverman NE; Raymond GV; Steinberg SJ
Mol Genet Metab; 2014 Apr; 111(4):522-532. PubMed ID: 24503136
[TBL] [Abstract][Full Text] [Related]
35. Rational diagnostic strategy for Zellweger syndrome spectrum patients.
Krause C; Rosewich H; Gärtner J
Eur J Hum Genet; 2009 Jun; 17(6):741-8. PubMed ID: 19142205
[TBL] [Abstract][Full Text] [Related]
36. Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails.
Dursun A; Gucer S; Ebberink MS; Yigit S; Wanders RJ; Waterham HR
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S345-8. PubMed ID: 20033294
[TBL] [Abstract][Full Text] [Related]
37. Low bone mineral density is a common feature of Zellweger spectrum disorders.
Rush ET; Goodwin JL; Braverman NE; Rizzo WB
Mol Genet Metab; 2016 Jan; 117(1):33-7. PubMed ID: 26643206
[TBL] [Abstract][Full Text] [Related]
38. Analysis of peroxisomes in lymphoblasts: Zellweger syndrome and a patient with a deletion in chromosome 7.
Santos MJ; Moser AB; Drwinga H; Moser HW; Lazarow PB
Pediatr Res; 1993 May; 33(5):441-4. PubMed ID: 8511016
[TBL] [Abstract][Full Text] [Related]
39. Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
Cheung A; Argyriou C; Yergeau C; D'Souza Y; Riou É; Lévesque S; Raymond G; Daba M; Rtskhiladze I; Tkemaladze T; Adang L; La Piana R; Bernard G; Braverman N
Neurogenetics; 2022 Apr; 23(2):115-127. PubMed ID: 35106698
[TBL] [Abstract][Full Text] [Related]
40. Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P; Baldassari S; Pedemonte N; Alkhunaizi E; D'Onofrio G; Tortora D; Calì E; Scudieri P; Balagura G; Musante I; Diana MC; Pedemonte M; Vari MS; Iacomino M; Riva A; Chimenz R; Mangano GD; Mohammadi MH; Toosi MB; Ashrafzadeh F; Imannezhad S; Karimiani EG; Accogli A; Schiaffino MC; Maghnie M; Soler MA; Echiverri K; Abrams CK; Striano P; Fortuna S; Maroofian R; Houlden H; Zara F; Fiorillo C; Salpietro V
Orphanet J Rare Dis; 2022 Jul; 17(1):286. PubMed ID: 35854306
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]