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Items: 1 to 20 of 73

1.

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.

Marsh AP, Yap P, Tan T, Pope K, White SM, Chong B, Mcgillivray G, Boys A, Stephenson SE, Leventer RJ, Stark Z, Lockhart PJ.

Am J Med Genet A. 2017 Mar;173(3):820-823. doi: 10.1002/ajmg.a.38076. Epub 2017 Feb 7. No abstract available.

PMID:
28168832
2.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Kortüm F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K.

Eur J Hum Genet. 2018 May;26(5):695-708. doi: 10.1038/s41431-018-0098-2. Epub 2018 Feb 20.

3.

Teaching NeuroImages: Figure of 8: The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9).

Severino M, Zara F, Rossi A, Striano P.

Neurology. 2017 Oct 3;89(14):e172-e173. doi: 10.1212/WNL.0000000000004542. No abstract available.

PMID:
28972112
4.

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.

Marsh APL, Novarino G, Lockhart PJ, Leventer RJ.

Eur J Hum Genet. 2019 Jan;27(1):161-166. doi: 10.1038/s41431-018-0231-2. Epub 2018 Aug 8.

PMID:
30089829
5.

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.

Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG.

Cell. 2013 Aug 1;154(3):505-17. doi: 10.1016/j.cell.2013.07.005.

6.

Molecular cloning of AMP deaminase isoform L. Sequence and bacterial expression of human AMPD2 cDNA.

Bausch-Jurken MT, Mahnke-Zizelman DK, Morisaki T, Sabina RL.

J Biol Chem. 1992 Nov 5;267(31):22407-13.

7.

Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4.

Rudaks LI, Moore L, Shand KL, Wilkinson C, Barnett CP.

Pediatr Neurol. 2011 Sep;45(3):185-8. doi: 10.1016/j.pediatrneurol.2011.05.009.

PMID:
21824568
8.

Genetic mutation in pontocerebellar hypoplasia.

Ajibola AJ, Omar SA, Friderici KH.

Clin Genet. 2010 Feb;77(2):197-9. doi: 10.1111/j.1399-0004.2009.01283.x. No abstract available.

PMID:
19807738
9.

Expression patterns of AMP-deaminase and cytosolic 5'-nucleotidase genes in human term placenta.

Roszkowska A, Klimek J, Kaletha K.

Mol Cell Biochem. 2008 Apr;311(1-2):249-51. doi: 10.1007/s11010-007-9699-8. Epub 2007 Dec 30.

PMID:
18165923
10.

A mutation in Ampd2 is associated with nephrotic syndrome and hypercholesterolemia in mice.

Helmering J, Juan T, Li CM, Chhoa M, Baron W, Gyuris T, Richards WG, Turk JR, Lawrence J, Cosgrove PA, Busby J, Kim KW, Kaufman SA, Cummings C, Carlson G, Véniant MM, Lloyd DJ.

Lipids Health Dis. 2014 Oct 31;13:167. doi: 10.1186/1476-511X-13-167.

11.

Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci.

Tsujino S, Shanske S, Carroll JE, Sabina RL, DiMauro S.

Neuromuscul Disord. 1995 Jul;5(4):263-6.

PMID:
7580237
12.

[Familial EXOSC3-related pontocerebellar hypoplasia].

Di Giovambattista AP, Jácome Querejeta I, Ventura Faci P, Rodríguez Martínez G, Ramos Fuentes F.

An Pediatr (Barc). 2017 May;86(5):284-286. doi: 10.1016/j.anpedi.2016.09.011. Epub 2016 Nov 19. Spanish. No abstract available.

13.

Cardiac muscle AMP-deaminase from a 10-year-old male heterozygous for the AMPD1 C34T mutation.

Rybakowska I, Bakuła S, Klimek J, Milczarek R, Smolenski RT, Kaletha K.

Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):453-6. doi: 10.1080/15257771003741380.

PMID:
20544536
14.

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.

Pavlidou E, Salpietro V, Phadke R, Hargreaves IP, Batten L, McElreavy K, Pitt M, Mankad K, Wilson C, Cutrupi MC, Ruggieri M, McCormick D, Saggar A, Kinali M.

Eur J Paediatr Neurol. 2016 May;20(3):483-8. doi: 10.1016/j.ejpn.2015.12.016. Epub 2016 Jan 11.

PMID:
26805434
15.

[Family of AMP-deaminase genes].

Szydłowska M.

Postepy Hig Med Dosw (Online). 2005;59:503-9. Review. Polish.

16.

Molecular biology of AMP deaminase deficiency.

Gross M.

Pharm World Sci. 1994 Apr 15;16(2):55-61. Review.

PMID:
8032342
17.

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Li Z, Schonberg R, Guidugli L, Johnson AK, Arnovitz S, Yang S, Scafidi J, Summar ML, Vezina G, Das S, Chapman K, del Gaudio D.

J Hum Genet. 2015 Jul;60(7):363-9. doi: 10.1038/jhg.2015.31. Epub 2015 Mar 26.

18.

Adenylate deaminase deficiency in a mutant murine T cell lymphoma cell line.

Hanson S, McCartan K, Sabina RL, Holmes EW, Ullman B.

J Biol Chem. 1990 Jul 15;265(20):11474-81.

19.

Expression patterns of AMP-deaminase isozymes in human hepatocellular carcinoma (HCC).

Szydłowska M, Roszkowska A.

Mol Cell Biochem. 2008 Nov;318(1-2):1-5. doi: 10.1007/s11010-008-9773-x. Epub 2008 May 21.

PMID:
18493842
20.

Ecto- and cytosolic 5'-nucleotidases in normal and AMP deaminase-deficient human skeletal muscle.

Hanisch F, Hellsten Y, Zierz S.

Biol Chem. 2006 Jan;387(1):53-8.

PMID:
16497164

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