246 related articles for article (PubMed ID: 24164096)
1. 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]
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. 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]
4. 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]
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. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.
Karimzadeh P; Najmabadi H; Lochmuller H; Babaee M; Dehdahsi S; Miryounesi M; Amirsalari S; Rayegani SM; Tonekaboni SH
Neuromuscul Disord; 2022 Oct; 32(10):806-810. PubMed ID: 36309462
[TBL] [Abstract][Full Text] [Related]
12. Functional analysis of a novel splice site variant in the ASAH1 gene.
Yan S; Fu F; Zhou H; Huang R; Wang Y; Liao C
Mol Genet Genomic Med; 2024 Jan; 12(1):e2317. PubMed ID: 37962265
[TBL] [Abstract][Full Text] [Related]
13. Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum.
Najafi A; Tasharrofi B; Zandsalimi F; Rasulinezhad M; Ghahvechi Akbari M; Zamani G; Ashrafi MR; Heidari M
Ital J Pediatr; 2023 Jun; 49(1):64. PubMed ID: 37280710
[TBL] [Abstract][Full Text] [Related]
14. Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.
Kernohan KD; Frésard L; Zappala Z; Hartley T; Smith KS; Wagner J; Xu H; McBride A; Bourque PR; Consortium CRC; Bennett SAL; Dyment DA; Boycott KM; Montgomery SB; Warman Chardon J
Hum Mutat; 2017 Jun; 38(6):611-614. PubMed ID: 28251733
[TBL] [Abstract][Full Text] [Related]
15. ASAH1 Variants Causing Spinal Muscular Atrophy Phenotype.
Wander A; Meena AK; Ghangoriya PK; Chakrabarty B; Jauhari P; Gulati S
Indian J Pediatr; 2023 Dec; ():. PubMed ID: 38079070
[TBL] [Abstract][Full Text] [Related]
16. Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation.
Oguz Akarsu E; Tekturk P; Yapici Z; Tepgec F; Uyguner ZO; Baykan B
Seizure; 2016 Nov; 42():49-51. PubMed ID: 27723502
[No Abstract] [Full Text] [Related]
17. 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]
18. A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran.
Shervin Badv R; Nilipour Y; Rahimi-Dehgolan S; Rashidi-Nezhad A; Ghahvechi Akbari M
Int Med Case Rep J; 2019; 12():155-159. PubMed ID: 31213928
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
