165 related articles for article (PubMed ID: 24719134)
1. Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
Park HJ; Shin HY; Kang HC; Choi BO; Suh BC; Kim HJ; Choi YC; Lee PH; Kim SM
Yonsei Med J; 2014 May; 55(3):676-82. PubMed ID: 24719134
[TBL] [Abstract][Full Text] [Related]
2. Clinical, neuroimaging, biochemical, and genetic features in six Chinese patients with Adrenomyeloneuropathy.
Li J; Wang H; He Z; Wang X; Tang J; Huang D
BMC Neurol; 2019 Sep; 19(1):227. PubMed ID: 31526374
[TBL] [Abstract][Full Text] [Related]
3. Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum.
Qiu Y; Xin L; Wang Y; Yu Y; Zou K; Zhou Q; Chen Y; Chen S; Zhu M; Hong D
Neurodegener Dis; 2018; 18(2-3):156-164. PubMed ID: 29966135
[TBL] [Abstract][Full Text] [Related]
4. Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.
Hsu SL; Chen YH; Chou CT; Chou YT; Tsai YS; Hsiao CT; Liao YC; Lee YC
Parkinsonism Relat Disord; 2021 Nov; 92():7-12. PubMed ID: 34649108
[TBL] [Abstract][Full Text] [Related]
5. Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report.
Shchubelka K; Herasymenko O; Budzyn A; Lysytsia O; Rusyn A; Oleksyk O; Tynta S; Oleksyk T
J Med Case Rep; 2024 Jan; 18(1):25. PubMed ID: 38245786
[TBL] [Abstract][Full Text] [Related]
6. A novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family.
Wang C; Liu H; Han B; Zhu H; Liu J
Brain Behav; 2019 Oct; 9(10):e01416. PubMed ID: 31557422
[TBL] [Abstract][Full Text] [Related]
7. ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN.
O'Neill GN; Aoki M; Brown RH
Neurology; 2001 Dec; 57(11):1956-62. PubMed ID: 11739809
[TBL] [Abstract][Full Text] [Related]
8. [Adrenoleukodystrophy and adrenomyeloneuropathy. Clinical biochemical and molecular genetic findings].
Vorgerd M; Benkmann HG; Tegenthoff M; Gal A; Malin JP
Nervenarzt; 1998 Feb; 69(2):174-9. PubMed ID: 9551465
[TBL] [Abstract][Full Text] [Related]
9. A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene.
Horikawa Y; Enya M; Yoshikura N; Kitagawa J; Takashima S; Shimozawa N; Takeda J
Neuro Endocrinol Lett; 2017 Feb; 38(1):13-18. PubMed ID: 28456143
[TBL] [Abstract][Full Text] [Related]
10. Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.
Guettsches AK; Kuechler A; Gal A; Schmitz W; Tegenthoff M; Vorgerd M
J Neurol; 2010 Aug; 257(8):1394-5. PubMed ID: 20195870
[TBL] [Abstract][Full Text] [Related]
11. Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1.
Takegami N; Matsukawa T; Hamada M; Tanifuji S; Tamura T; Yamaguchi-Takegami N; Ishiura H; Mitsui J; Sakuishi K; Tsuji S; Toda T
Intern Med; 2024 Apr; 63(7):999-1004. PubMed ID: 37558478
[TBL] [Abstract][Full Text] [Related]
12. Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis.
Singh I; Pujol A
Brain Pathol; 2010 Jul; 20(4):838-44. PubMed ID: 20626745
[TBL] [Abstract][Full Text] [Related]
13. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.
Kemp S; Berger J; Aubourg P
Biochim Biophys Acta; 2012 Sep; 1822(9):1465-74. PubMed ID: 22483867
[TBL] [Abstract][Full Text] [Related]
14. Brain MRI and electrophysiologic abnormalities in preclinical and clinical adrenomyeloneuropathy.
Aubourg P; Adamsbaum C; Lavallard-Rousseau MC; Lemaitre A; Boureau F; Mayer M; Kalifa G
Neurology; 1992 Jan; 42(1):85-91. PubMed ID: 1734328
[TBL] [Abstract][Full Text] [Related]
15. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Kemp S; Pujol A; Waterham HR; van Geel BM; Boehm CD; Raymond GV; Cutting GR; Wanders RJ; Moser HW
Hum Mutat; 2001 Dec; 18(6):499-515. PubMed ID: 11748843
[TBL] [Abstract][Full Text] [Related]
16. Rare variability in adrenoleukodystrophy: a case report.
Chen Y; Polara F; Pillai A
J Med Case Rep; 2018 Jun; 12(1):182. PubMed ID: 29950168
[TBL] [Abstract][Full Text] [Related]
17. Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy.
Schlüter A; Espinosa L; Fourcade S; Galino J; López E; Ilieva E; Morató L; Asheuer M; Cook T; McLaren A; Reid J; Kelly F; Bates S; Aubourg P; Galea E; Pujol A
Hum Mol Genet; 2012 Mar; 21(5):1062-77. PubMed ID: 22095690
[TBL] [Abstract][Full Text] [Related]
18. A Large Family with p.Arg554His Mutation in
Campopiano R; Femiano C; Chiaravalloti MA; Ferese R; Centonze D; Buttari F; Zampatti S; Fanelli M; Amatori S; D'Alessio C; Giardina E; Fornai F; Biagioni F; Storto M; Gambardella S
Genes (Basel); 2021 May; 12(5):. PubMed ID: 34069712
[TBL] [Abstract][Full Text] [Related]
19. Leukoencephalopathy With Predominant Infratentorial Involvement Caused by a Novel ABCD1 Mutation: Does the Spinocerebellar Variant of Adrenoleukodystrophy Exist?
Benzoni C; Farina L; Pensato V; Marotta G; Kuqo A; Mauro E; Pareyson D; Salsano E
Neurologist; 2019 Nov; 24(6):194-197. PubMed ID: 31688712
[TBL] [Abstract][Full Text] [Related]
20. Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.
Triantafyllou P; Economou M; Vlachaki E; Aggelaki M; Athanassiou-Mataxa M; Michelakaki E; Zafeiriou DI
Pediatr Neurol; 2014 Jun; 50(6):622-4. PubMed ID: 24685009
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]