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Items: 1 to 20 of 102

1.

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.

Régal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG.

Neurology. 2014 Apr 8;82(14):1254-60. doi: 10.1212/WNL.0000000000000295. Epub 2014 Mar 7.

2.

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW.

J Med Genet. 2008 May;45(5):314-8. doi: 10.1136/jmg.2007.055475. Epub 2008 Jan 30.

PMID:
18234729
3.

Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.

Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, de Zegher F, Creemers JW, Matthijs G.

Am J Hum Genet. 2006 Jan;78(1):38-51. Epub 2005 Nov 23.

4.

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.

Bartholdi D, Asadollahi R, Oneda B, Schmitt-Mechelke T, Tonella P, Baumer A, Rauch A.

Am J Med Genet A. 2013 Aug;161A(8):1853-9. doi: 10.1002/ajmg.a.35994. Epub 2013 Jun 21.

PMID:
23794250
5.

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW.

BMJ Case Rep. 2009;2009. pii: bcr08.2008.0719. doi: 10.1136/bcr.08.2008.0719. Epub 2009 Feb 2.

6.

Multi-system disorder syndromes associated with cystinuria type I.

Martens K, Jaeken J, Matthijs G, Creemers JW.

Curr Mol Med. 2008 Sep;8(6):544-50. Review.

PMID:
18781961
7.

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.

Martens K, Heulens I, Meulemans S, Zaffanello M, Tilstra D, Hes FJ, Rooman R, François I, de Zegher F, Jaeken J, Matthijs G, Creemers JW.

Eur J Hum Genet. 2007 Oct;15(10):1029-33. Epub 2007 Jun 20.

8.

Two novel deletions in hypotonia-cystinuria syndrome.

Régal L, Aydin HI, Dieltjens AM, Van Esch H, Francois I, Okur I, Zeybek C, Meulemans S, Van Mol C, Van Bruwaene L, Then SH, Jaeken J, Creemers J.

Mol Genet Metab. 2012 Nov;107(3):614-6. doi: 10.1016/j.ymgme.2012.06.011. Epub 2012 Jun 26.

PMID:
22796000
9.

Deletion of PREPl causes growth impairment and hypotonia in mice.

Lone AM, Leidl M, McFedries AK, Horner JW, Creemers J, Saghatelian A.

PLoS One. 2014 Feb 28;9(2):e89160. doi: 10.1371/journal.pone.0089160. eCollection 2014.

10.

2p21 Deletions in hypotonia-cystinuria syndrome.

Eggermann T, Spengler S, Venghaus A, Denecke B, Zerres K, Baudis M, Ensenauer R.

Eur J Med Genet. 2012 Oct;55(10):561-3. doi: 10.1016/j.ejmg.2012.06.008. Epub 2012 Jul 17.

PMID:
22766003
11.

PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients.

Boonen K, Régal L, Jaeken J, Creemers JW.

CNS Neurol Disord Drug Targets. 2011 May;10(3):355-60.

PMID:
21222627
12.

Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.

Banwell BL, Ohno K, Sieb JP, Engel AG.

Neuromuscul Disord. 2004 Mar;14(3):202-7.

PMID:
15036330
13.

Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.

Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J.

Ann Neurol. 2002 Jan;51(1):102-12.

14.

PREPL: a putative novel oligopeptidase propelled into the limelight.

Martens K, Derua R, Meulemans S, Waelkens E, Jaeken J, Matthijs G, Creemers JW.

Biol Chem. 2006 Jul;387(7):879-83. Review.

PMID:
16913837
15.

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.

Yasaki E, Prioleau C, Barbier J, Richard P, Andreux F, Leroy JP, Dartevelle P, Koenig J, Molgó J, Fardeau M, Eymard B, Hantaï D.

Neuromuscul Disord. 2004 Jan;14(1):24-32.

PMID:
14659409
16.

Congenital myasthenic syndromes in childhood: diagnostic and management challenges.

Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA.

J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j.jneuroim.2008.06.026. Epub 2008 Aug 15.

PMID:
18707767
17.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H.

Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20.

18.

[Congenital myasthenic syndromes. Clinical and electromyographic evaluation].

Martin Santidrian MA, Prats Viñas JM, Garaizar Axpe C, Ruiz Espinosa C.

An Esp Pediatr. 2002 Jan;56(1):10-6. Spanish.

PMID:
11792263
19.

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.

Webster R, Brydson M, Croxen R, Newsom-Davis J, Vincent A, Beeson D.

Neurology. 2004 Apr 13;62(7):1090-6.

PMID:
15079006
20.

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.

Webster R, Maxwell S, Spearman H, Tai K, Beckstein O, Sansom M, Beeson D.

Brain. 2012 Apr;135(Pt 4):1070-80. doi: 10.1093/brain/aws016. Epub 2012 Mar 1.

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