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Best matches for "Occipital horn syndrome" OR (cutis laxa/ge (chromosome X OR ATP7A)):

An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. Tümer Z et al. Hum Mutat. (2013)

Small amounts of functional ATP7A protein permit mild phenotype. Møller LB et al. J Trace Elem Med Biol. (2015)

Inborn errors of copper metabolism. Kaler SG et al. Handb Clin Neurol. (2013)

Search results

Items: 1 to 20 of 82


Interaction between the AAA ATPase p97/VCP and a concealed UBX domain in the copper transporter ATP7A is associated with motor neuron degeneration.

Yi L, Kaler SG.

J Biol Chem. 2018 May 18;293(20):7606-7617. doi: 10.1074/jbc.RA117.000686. Epub 2018 Mar 29.


Wilson disease and related copper disorders.

Lorincz MT.

Handb Clin Neurol. 2018;147:279-292. doi: 10.1016/B978-0-444-63233-3.00018-X. Review.


A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype.

Bonati MT, Verde F, Hladnik U, Cattelan P, Campana L, Castronovo C, Ticozzi N, Maderna L, Colombrita C, Papa S, Banfi P, Silani V.

Mol Genet Metab Rep. 2017 Jul 21;13:14-17. doi: 10.1016/j.ymgmr.2017.07.007. eCollection 2017 Dec.


Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ, Gayevskiy V, Roscioli T, Mohamed M, Gardeitchik T, Morava E, Christodoulou J.

J Inherit Metab Dis. 2017 Sep;40(5):745-747. doi: 10.1007/s10545-017-0036-4. Epub 2017 Apr 13.


Menkes disease and response to copper histidine: An Indian case series.

Yoganathan S, Sudhakar SV, Arunachal G, Thomas M, Subramanian A, George R, Danda S.

Ann Indian Acad Neurol. 2017 Jan-Mar;20(1):62-68. doi: 10.4103/0972-2327.199907.


Phenotypic convergence of Menkes and Wilson disease.

Bansagi B, Lewis-Smith D, Pal E, Duff J, Griffin H, Pyle A, Müller JS, Rudas G, Aranyi Z, Lochmüller H, Chinnery PF, Horvath R.

Neurol Genet. 2016 Nov 17;2(6):e119. eCollection 2016 Dec.


Menkes disease: what a multidisciplinary approach can do.

Ojha R, Prasad AN.

J Multidiscip Healthc. 2016 Aug 17;9:371-85. doi: 10.2147/JMDH.S93454. eCollection 2016. Review.


ATP7A-Related Copper Transport Disorders.

Kaler SG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 May 9 [updated 2016 Aug 18].


Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).

Perez-Siles G, Grant A, Ellis M, Ly C, Kidambi A, Khalil M, Llanos RM, Fontaine SL, Strickland AV, Züchner S, Bermeo S, Neist E, Brennan-Speranza TC, Takata RI, Speck-Martins CE, Mercer JF, Nicholson GA, Kennerson ML.

Metallomics. 2016 Sep 1;8(9):981-92. doi: 10.1039/c6mt00082g. Epub 2016 Jun 13.


[Multiple bladder diverticula caused by occipital horn syndrome].

Legros L, Revencu N, Nassogne MC, Wese FX, Feyaerts A.

Arch Pediatr. 2015 Nov;22(11):1147-50. doi: 10.1016/j.arcped.2015.07.017. Epub 2015 Sep 16. French.


Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.

Protasova MS, Grigorenko AP, Tyazhelova TV, Andreeva TV, Reshetov DA, Gusev FE, Laptenko AE, Kuznetsova IL, Goltsov AY, Klyushnikov SA, Illarioshkin SN, Rogaev EI.

Eur J Hum Genet. 2016 Apr;24(4):550-5. doi: 10.1038/ejhg.2015.139. Epub 2015 Aug 5.


Small amounts of functional ATP7A protein permit mild phenotype.

Møller LB.

J Trace Elem Med Biol. 2015;31:173-7. doi: 10.1016/j.jtemb.2014.07.022. Epub 2014 Aug 8. Review.


ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A.

Yi L, Kaler S.

Ann N Y Acad Sci. 2014 May;1314:49-54. doi: 10.1111/nyas.12427. Epub 2014 Apr 22.


Translational research investigations on ATP7A: an important human copper ATPase.

Kaler SG.

Ann N Y Acad Sci. 2014 May;1314:64-8. doi: 10.1111/nyas.12422. Epub 2014 Apr 15. Review.


Disorders of heavy metals.

Woimant F, Trocello JM.

Handb Clin Neurol. 2014;120:851-64. doi: 10.1016/B978-0-7020-4087-0.00057-7. Review.


Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.

Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, Martins M, Skjørringe T, Møller LB.

Eur J Hum Genet. 2014 Apr;22(4):517-21. doi: 10.1038/ejhg.2013.191. Epub 2013 Sep 4.


Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis.

Telianidis J, Hung YH, Materia S, Fontaine SL.

Front Aging Neurosci. 2013 Aug 23;5:44. doi: 10.3389/fnagi.2013.00044. eCollection 2013.


Inborn errors of copper metabolism.

Kaler SG.

Handb Clin Neurol. 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. Review.


The mild form of menkes disease: a 34 year progress report on the original case.

Tchan MC, Wilcken B, Christodoulou J.

JIMD Rep. 2013;9:81-84. doi: 10.1007/8904_2012_183. Epub 2012 Oct 13.

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