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Items: 1 to 20 of 134

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

Clin Genet. 2014 Dec;86(6):558-63. doi: 10.1111/cge.12307. Epub 2013 Nov 21.

PMID:
24164096
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. Epub 2015 Sep 16.

PMID:
26526000
3.

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. Epub 2016 Mar 30.

PMID:
27026573
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. Epub 2015 Apr 3.

5.

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. Epub 2014 Nov 22.

PMID:
25578555
6.

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. Epub 2012 Jun 14.

7.

Spinal muscular atrophy associated with progressive myoclonus epilepsy.

Topaloglu H, Melki J.

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

PMID:
27647482
8.

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. Epub 2016 Sep 20.

9.

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. Epub 2016 Sep 23. No abstract available.

PMID:
27723502
10.

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
11.

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. doi: 10.1002/humu.23211. Epub 2017 Mar 28.

PMID:
28251733
12.

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. Epub 2013 May 4.

PMID:
23707712
13.

The molecular medicine of acid ceramidase.

Frohbergh M, He X, Schuchman EH.

Biol Chem. 2015 Jun;396(6-7):759-65. doi: 10.1515/hsz-2014-0290. Review.

PMID:
25938220
14.

Association of progressive myoclonic epilepsy and spinal muscular atrophy.

Marjanovic B, Todorovic S, Dozic S.

Pediatr Neurol. 1993 Mar-Apr;9(2):147-50.

PMID:
8499046
15.
16.

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.

Sun Y, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.

Hum Mutat. 2005 Jan;25(1):64-71.

PMID:
15580564
18.

[Clinical, electrophysiological and molecular study of 26 chilean patients with spinal muscular atrophy].

Castiglioni C, Levicán J, Rodillo E, Garmendia MA, Díaz A, Pizarro L, Contreras L.

Rev Med Chil. 2011 Feb;139(2):197-204. doi: /S0034-98872011000200009. Epub 2011 Jul 11. Spanish.

19.

Large motor unit territories by scanning electromyography in patients with juvenile myoclonic epilepsy.

Goker I, Baslo B, Ertas M, Ulgen Y.

J Clin Neurophysiol. 2010 Jun;27(3):212-5. doi: 10.1097/WNP.0b013e3181e0b228.

PMID:
20461011
20.

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

Neveling K, Martinez-Carrera LA, Hölker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schöneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B.

Am J Hum Genet. 2013 Jun 6;92(6):946-54. doi: 10.1016/j.ajhg.2013.04.011. Epub 2013 May 9.

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