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Items: 1 to 20 of 118

1.

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. doi: 10.1016/j.nmd.2014.11.007.

PMID:
25578555
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. doi: 10.1016/j.nmd.2015.09.007.

PMID:
26526000
3.

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 13;91(1):5-14. doi: 10.1016/j.ajhg.2012.05.001.

4.

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. doi: 10.1111/epi.12977.

5.

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; FORGE Canada Consortium., Majewski J, Bulman DE, Levade T, Boycott KM.

Clin Genet. 2014 Dec;86(6):558-63. doi: 10.1111/cge.12307.

PMID:
24164096
6.

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. doi: 10.1038/ejhg.2016.28.

PMID:
27026573
7.

Spinal muscular atrophy associated with progressive myoclonus epilepsy.

Topaloglu H, Melki J.

Epileptic Disord. 2016 Sep 1;18(S2):128-134.

PMID:
27647482
8.

Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature.

Haliloglu G, Chattopadhyay A, Skorodis L, Manzur A, Mercuri E, Talim B, Akçören Z, Renda Y, Muntoni F, Topaloğlu H.

Neuropediatrics. 2002 Dec;33(6):314-9.

PMID:
12571787
9.

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.

Hahnen E, Forkert R, Marke C, Rudnik-Schöneborn S, Schönling J, Zerres K, Wirth B.

Hum Mol Genet. 1995 Oct;4(10):1927-33.

PMID:
8595417
11.

Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene.

Alves MQ, Le Trionnaire E, Ribeiro I, Carpentier S, Harzer K, Levade T, Ribeiro MG.

Mol Genet Metab. 2013 Jul;109(3):276-81. doi: 10.1016/j.ymgme.2013.04.019.

PMID:
23707712
12.

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.

Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF.

Hum Mutat. 2003 Aug;22(2):136-43.

PMID:
12872254
13.

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM, Berkovic SF.

Brain. 2013 Apr;136(Pt 4):1146-54. doi: 10.1093/brain/awt021.

PMID:
23449775
14.

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). pii: e20161068.

PMID:
27650050
15.

Association of type IV spinal muscular atrophy (SMA) with myoclonic epilepsy within a single family.

Liyanage DS, Pathberiya LS, Gooneratne IK, Vithanage KK, Gamage R.

Int Arch Med. 2014 Sep 26;7(1):42. doi: 10.1186/1755-7682-7-42.

16.

Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.

D'Aco KE, Bearden D, Watkins D, Hyland K, Rosenblatt DS, Ficicioglu C.

Pediatr Neurol. 2014 Aug;51(2):266-70. doi: 10.1016/j.pediatrneurol.2014.04.005.

PMID:
25079578
17.

Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues.

Wang CH, Carter TA, Das K, Xu J, Ross BM, Penchaszadeh GK, Gilliam TC.

Ann Neurol. 1997 Jul;42(1):41-9.

PMID:
9225684
18.

Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia.

Le Ber I, Camuzat A, Castelnovo G, Azulay JP, Genton P, Gastaut JL, Broglin D, Labauge P, Brice A, Durr A.

Arch Neurol. 2003 Aug;60(8):1097-9.

PMID:
12925365
19.

Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.

Luan X, Huang X, Liu X, Zhou H, Chen S, Cao L.

Brain Dev. 2016 Aug;38(7):685-9. doi: 10.1016/j.braindev.2016.02.001. Review.

PMID:
26922252
20.

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. doi: 10.1016/j.seizure.2016.09.007. No abstract available.

PMID:
27723502
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