157 related articles for article (PubMed ID: 29754261)
1. Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.
Steenhof M; Kibæk M; Larsen MJ; Christensen M; Lund AM; Brusgaard K; Hertz JM
Neurogenetics; 2018 Aug; 19(3):145-149. PubMed ID: 29754261
[TBL] [Abstract][Full Text] [Related]
2. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Coutelier M; Goizet C; Durr A; Habarou F; Morais S; Dionne-Laporte A; Tao F; Konop J; Stoll M; Charles P; Jacoupy M; Matusiak R; Alonso I; Tallaksen C; Mairey M; Kennerson M; Gaussen M; Schule R; Janin M; Morice-Picard F; Durand CM; Depienne C; Calvas P; Coutinho P; Saudubray JM; Rouleau G; Brice A; Nicholson G; Darios F; Loureiro JL; Zuchner S; Ottolenghi C; Mochel F; Stevanin G
Brain; 2015 Aug; 138(Pt 8):2191-205. PubMed ID: 26026163
[TBL] [Abstract][Full Text] [Related]
3. Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.
Kalmár T; Maróti Z; Zimmermann A; Sztriha L
Brain Dev; 2021 Jan; 43(1):144-151. PubMed ID: 32798076
[TBL] [Abstract][Full Text] [Related]
4. Δ
Marco-Marín C; Escamilla-Honrubia JM; Llácer JL; Seri M; Panza E; Rubio V
J Inherit Metab Dis; 2020 Jul; 43(4):657-670. PubMed ID: 32017139
[TBL] [Abstract][Full Text] [Related]
5. SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.
Koh K; Takaki R; Ishiura H; Tsuji S; Takiyama Y
BMC Neurol; 2021 Feb; 21(1):64. PubMed ID: 33573605
[TBL] [Abstract][Full Text] [Related]
6. P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9.
Magini P; Marco-Marin C; Escamilla-Honrubia JM; Martinelli D; Dionisi-Vici C; Faravelli F; Forzano F; Seri M; Rubio V; Panza E
Ann Clin Transl Neurol; 2019 Aug; 6(8):1533-1540. PubMed ID: 31402623
[TBL] [Abstract][Full Text] [Related]
7. Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy.
Marelli C; Badiou S; Genestet S; Larrieu L; Damier P; Camu W; Planes M; Koenig M; Guissart C
Neurol Sci; 2020 Jul; 41(7):1931-1933. PubMed ID: 32221810
[TBL] [Abstract][Full Text] [Related]
8. Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.
Koh K; Ishiura H; Beppu M; Shimazaki H; Ichinose Y; Mitsui J; Kuwabara S; Tsuji S; Takiyama Y;
J Hum Genet; 2018 Sep; 63(9):1009-1013. PubMed ID: 29915212
[TBL] [Abstract][Full Text] [Related]
9. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Fischer-Zirnsak B; Escande-Beillard N; Ganesh J; Tan YX; Al Bughaili M; Lin AE; Sahai I; Bahena P; Reichert SL; Loh A; Wright GD; Liu J; Rahikkala E; Pivnick EK; Choudhri AF; Krüger U; Zemojtel T; van Ravenswaaij-Arts C; Mostafavi R; Stolte-Dijkstra I; Symoens S; Pajunen L; Al-Gazali L; Meierhofer D; Robinson PN; Mundlos S; Villarroel CE; Byers P; Masri A; Robertson SP; Schwarze U; Callewaert B; Reversade B; Kornak U
Am J Hum Genet; 2015 Sep; 97(3):483-92. PubMed ID: 26320891
[TBL] [Abstract][Full Text] [Related]
10. Novel Compound Missense and Intronic Splicing Mutation in
Chen YJ; Zhang ZQ; Wang MW; Qiu YS; Yuan RY; Dong EL; Zhao Z; Zhou HT; Wang N; Chen WJ; Lin X
Front Neurol; 2021; 12():627531. PubMed ID: 34093392
[No Abstract] [Full Text] [Related]
11. Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
Coutelier M; Mochel F; Saudubray JM; Ottolenghi C; Stevanin G
Brain; 2016 Jan; 139(Pt 1):e4. PubMed ID: 26297557
[No Abstract] [Full Text] [Related]
12. ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
Panza E; Escamilla-Honrubia JM; Marco-Marín C; Gougeard N; De Michele G; Morra VB; Liguori R; Salviati L; Donati MA; Cusano R; Pippucci T; Ravazzolo R; Németh AH; Smithson S; Davies S; Hurst JA; Bordo D; Rubio V; Seri M
Brain; 2016 Jan; 139(Pt 1):e3. PubMed ID: 26297558
[No Abstract] [Full Text] [Related]
13. ALDH18A1-related cutis laxa syndrome with cyclic vomiting.
Nozaki F; Kusunoki T; Okamoto N; Yamamoto Y; Miya F; Tsunoda T; Kosaki K; Kumada T; Shibata M; Fujii T
Brain Dev; 2016 Aug; 38(7):678-84. PubMed ID: 26829900
[TBL] [Abstract][Full Text] [Related]
14. Comparative and evolutionary studies of ALDH18A1 genes and proteins.
Holmes RS
Chem Biol Interact; 2017 Oct; 276():2-8. PubMed ID: 27989597
[TBL] [Abstract][Full Text] [Related]
15. Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
Colonna MB; Moss T; Mokashi S; Srikanth S; Jones JR; Foley JR; Skinner C; Lichty A; Kocur A; Wood T; Stewart TM; Casero RA; Flanagan-Steet H; Edison AS; Lyons MJ; Steet R
Hum Mol Genet; 2023 Feb; 32(5):732-744. PubMed ID: 36067040
[TBL] [Abstract][Full Text] [Related]
16. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
Bicknell LS; Pitt J; Aftimos S; Ramadas R; Maw MA; Robertson SP
Eur J Hum Genet; 2008 Oct; 16(10):1176-86. PubMed ID: 18478038
[TBL] [Abstract][Full Text] [Related]
17. Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
Fischer B; Callewaert B; Schröter P; Coucke PJ; Schlack C; Ott CE; Morroni M; Homann W; Mundlos S; Morava E; Ficcadenti A; Kornak U
Mol Genet Metab; 2014 Aug; 112(4):310-6. PubMed ID: 24913064
[TBL] [Abstract][Full Text] [Related]
18. Motor protein mutations cause a new form of hereditary spastic paraplegia.
Caballero Oteyza A; Battaloğlu E; Ocek L; Lindig T; Reichbauer J; Rebelo AP; Gonzalez MA; Zorlu Y; Ozes B; Timmann D; Bender B; Woehlke G; Züchner S; Schöls L; Schüle R
Neurology; 2014 Jun; 82(22):2007-16. PubMed ID: 24808017
[TBL] [Abstract][Full Text] [Related]
19. Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.
Marelli C; Lamari F; Rainteau D; Lafourcade A; Banneau G; Humbert L; Monin ML; Petit E; Debs R; Castelnovo G; Ollagnon E; Lavie J; Pilliod J; Coupry I; Babin PJ; Guissart C; Benyounes I; Ullmann U; Lesca G; Thauvin-Robinet C; Labauge P; Odent S; Ewenczyk C; Wolf C; Stevanin G; Hajage D; Durr A; Goizet C; Mochel F
Brain; 2018 Jan; 141(1):72-84. PubMed ID: 29228183
[TBL] [Abstract][Full Text] [Related]
20. Hereditary spastic paraplegias.
Lau KK; Ching CK; Mak CM; Chan YW
Hong Kong Med J; 2009 Jun; 15(3):217-20. PubMed ID: 19494379
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
