155 related articles for article (PubMed ID: 32627310)
1. Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.
Lee BH; Mongiovi P; Levade T; Marston B; Mountain J; Ciafaloni E
Am J Med Genet A; 2020 Oct; 182(10):2369-2371. PubMed ID: 32627310
[TBL] [Abstract][Full Text] [Related]
2. Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy.
Gan JJ; Garcia V; Tian J; Tagliati M; Parisi JE; Chung JM; Lewis R; Baloh R; Levade T; Pierson TM
Neuromuscul Disord; 2015 Dec; 25(12):959-63. PubMed ID: 26526000
[TBL] [Abstract][Full Text] [Related]
3. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Elsea SH; Solyom A; Martin K; Harmatz P; Mitchell J; Lampe C; Grant C; Selim L; Mungan NO; Guelbert N; Magnusson B; Sundberg E; Puri R; Kapoor S; Arslan N; DiRocco M; Zaki M; Ozen S; Mahmoud IG; Ehlert K; Hahn A; Gokcay G; Torcoletti M; Ferreira CR
Hum Mutat; 2020 Sep; 41(9):1469-1487. PubMed ID: 32449975
[TBL] [Abstract][Full Text] [Related]
4. ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
Mahmoud IG; Elmonem MA; Zaki MS; Ramadan A; Al-Menabawy NM; El-Gamal A; Mansour L; Issa MY; Abdel-Hamid MS; Abdel-Hady S; Khalifa I; Ibrahim A; Solyom A; Rolfs A; Selim L
Clin Genet; 2020 Dec; 98(6):598-605. PubMed ID: 32875576
[TBL] [Abstract][Full Text] [Related]
5. Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1.
Yildiz EP; Yesil G; Bektas G; Caliskan M; Tatlı B; Aydinli N; Ozmen M
Clin Neurol Neurosurg; 2018 Jan; 164():47-49. PubMed ID: 29169047
[TBL] [Abstract][Full Text] [Related]
6. Spinal muscular atrophy associated with progressive myoclonus epilepsy.
Topaloglu H; Melki J
Epileptic Disord; 2016 Sep; 18(S2):128-134. PubMed ID: 27647482
[TBL] [Abstract][Full Text] [Related]
7. Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency.
Teoh HL; Solyom A; Schuchman EH; Mowat D; Roscioli T; Farrar M; Sampaio H
Pediatrics; 2016 Oct; 138(4):. PubMed ID: 27650050
[TBL] [Abstract][Full Text] [Related]
8. Acid ceramidase deficiency: Farber disease and SMA-PME.
Yu FPS; Amintas S; Levade T; Medin JA
Orphanet J Rare Dis; 2018 Jul; 13(1):121. PubMed ID: 30029679
[TBL] [Abstract][Full Text] [Related]
9. Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.
Nagree MS; Rybova J; Kleynerman A; Ahrenhoerster CJ; Saville JT; Xu T; Bachochin M; McKillop WM; Lawlor MW; Pshezhetsky AV; Isaeva O; Budde MD; Fuller M; Medin JA
Commun Biol; 2023 May; 6(1):560. PubMed ID: 37231125
[TBL] [Abstract][Full Text] [Related]
10. A case of ASAH1-related pure SMA evolving into adult-onset Farber disease.
Puma A; Ezaru A; Cavalli M; Villa L; Torre F; Biancalana V; Levade T; Grecu N; Sacconi S
Clin Genet; 2021 Aug; 100(2):234-235. PubMed ID: 34240417
[No Abstract] [Full Text] [Related]
11. ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.
Filosto M; Aureli M; Castellotti B; Rinaldi F; Schiumarini D; Valsecchi M; Lualdi S; Mazzotti R; Pensato V; Rota S; Gellera C; Filocamo M; Padovani A
Eur J Hum Genet; 2016 Nov; 24(11):1578-1583. PubMed ID: 27026573
[TBL] [Abstract][Full Text] [Related]
12. Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency.
Axente M; Shelby ES; Mirea A; Sporea C; Badina M; Padure L; Ion DA
J Med Life; 2021; 14(3):424-428. PubMed ID: 34377212
[TBL] [Abstract][Full Text] [Related]
13. Farber disease in a patient from China.
Bao X; Ma M; Zhang Z; Xu Y; Qiu Z
Am J Med Genet A; 2020 Sep; 182(9):2184-2186. PubMed ID: 32706452
[TBL] [Abstract][Full Text] [Related]
14. Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.
Kleynerman A; Rybova J; Faber ML; McKillop WM; Levade T; Medin JA
Biomolecules; 2023 Feb; 13(2):. PubMed ID: 36830643
[TBL] [Abstract][Full Text] [Related]
15. Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.
Rubboli G; Veggiotti P; Pini A; Berardinelli A; Cantalupo G; Bertini E; Tiziano FD; D'Amico A; Piazza E; Abiusi E; Fiori S; Pasini E; Darra F; Gobbi G; Michelucci R
Epilepsia; 2015 May; 56(5):692-8. PubMed ID: 25847462
[TBL] [Abstract][Full Text] [Related]
16. Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1.
Giráldez BG; Guerrero-López R; Ortega-Moreno L; Verdú A; Carrascosa-Romero MC; García-Campos Ó; García-Muñozguren S; Pardal-Fernández JM; Serratosa JM
Neuromuscul Disord; 2015 Mar; 25(3):222-4. PubMed ID: 25578555
[TBL] [Abstract][Full Text] [Related]
17. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
Zhou J; Tawk M; Tiziano FD; Veillet J; Bayes M; Nolent F; Garcia V; Servidei S; Bertini E; Castro-Giner F; Renda Y; Carpentier S; Andrieu-Abadie N; Gut I; Levade T; Topaloglu H; Melki J
Am J Hum Genet; 2012 Jul; 91(1):5-14. PubMed ID: 22703880
[TBL] [Abstract][Full Text] [Related]
18. Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
Dyment DA; Sell E; Vanstone MR; Smith AC; Garandeau D; Garcia V; Carpentier S; Le Trionnaire E; Sabourdy F; Beaulieu CL; Schwartzentruber JA; McMillan HJ; ; Majewski J; Bulman DE; Levade T; Boycott KM
Clin Genet; 2014 Dec; 86(6):558-63. PubMed ID: 24164096
[TBL] [Abstract][Full Text] [Related]
19. Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.
Cvitanovic-Sojat L; Gjergja Juraski R; Sabourdy F; Fensom AH; Fumic K; Paschke E; Levade T
Eur J Paediatr Neurol; 2011 Mar; 15(2):171-3. PubMed ID: 20609603
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
