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Items: 13

1.

De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.

Mueller N, Sassa T, Morales-Gonzalez S, Schneider J, Salchow DJ, Seelow D, Knierim E, Stenzel W, Kihara A, Schuelke M.

J Med Genet. 2019 Mar;56(3):164-175. doi: 10.1136/jmedgenet-2018-105711. Epub 2018 Nov 28.

PMID:
30487246
2.

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG.

Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011.

3.

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.

von Renesse A, Morales-Gonzalez S, Gill E, Salomons GS, Stenzel W, Schuelke M.

JIMD Rep. 2019;43:27-35. doi: 10.1007/8904_2018_93. Epub 2018 Apr 14.

4.

Aicardi-Goutières syndrome with muscle involvement in early infancy.

Deigendesch N, Morales-Gonzalez S, Weschke B, Goebel HH, Schuelke M, Stenzel W.

Neuropathol Appl Neurobiol. 2018 Dec;44(7):737-742. doi: 10.1111/nan.12454. No abstract available.

PMID:
29210089
5.

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

Knierim E, Gill E, Seifert F, Morales-Gonzalez S, Unudurthi SD, Hund TJ, Stenzel W, Schuelke M.

Hum Genet. 2017 Jul;136(7):903-910. doi: 10.1007/s00439-017-1814-7. Epub 2017 May 24.

PMID:
28540413
6.

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.

Schottmann G, Seelow D, Seifert F, Morales-Gonzalez S, Gill E, von Au K, von Moers A, Stenzel W, Schuelke M.

Neurol Genet. 2015 Oct 22;1(4):e32. doi: 10.1212/NXG.0000000000000032. eCollection 2015 Dec.

7.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M.

Am J Hum Genet. 2016 Mar 3;98(3):473-489. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25.

8.

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

Rajab A, Schuelke M, Gill E, Zwirner A, Seifert F, Morales Gonzalez S, Knierim E.

J Med Genet. 2015 Sep;52(9):607-11. doi: 10.1136/jmedgenet-2015-103083. Epub 2015 Jun 5.

PMID:
26048982
9.

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

Schottmann G, Jungbluth H, Schara U, Knierim E, Morales Gonzalez S, Gill E, Seifert F, Norwood F, Deshpande C, von Au K, Schuelke M, Senderek J.

Neurology. 2015 Feb 3;84(5):523-31. doi: 10.1212/WNL.0000000000001220. Epub 2015 Jan 7.

PMID:
25568292
10.

Myostatin is a key mediator between energy metabolism and endurance capacity of skeletal muscle.

Mouisel E, Relizani K, Mille-Hamard L, Denis R, Hourdé C, Agbulut O, Patel K, Arandel L, Morales-Gonzalez S, Vignaud A, Garcia L, Ferry A, Luquet S, Billat V, Ventura-Clapier R, Schuelke M, Amthor H.

Am J Physiol Regul Integr Comp Physiol. 2014 Aug 15;307(4):R444-54. doi: 10.1152/ajpregu.00377.2013. Epub 2014 Jun 25.

11.

Blockade of ActRIIB signaling triggers muscle fatigability and metabolic myopathy.

Relizani K, Mouisel E, Giannesini B, Hourdé C, Patel K, Morales Gonzalez S, Jülich K, Vignaud A, Piétri-Rouxel F, Fortin D, Garcia L, Blot S, Ritvos O, Bendahan D, Ferry A, Ventura-Clapier R, Schuelke M, Amthor H.

Mol Ther. 2014 Aug;22(8):1423-1433. doi: 10.1038/mt.2014.90. Epub 2014 May 27.

12.

[Cholestasis: an atypical presentation of portal cavernomatosis].

Baudet Arteaga JS, Moreno García M, Morales González S, Vela González M, Rocío Pérez AM, Laynez Cerdeña P, Avilés Ruiz JF.

Rev Esp Enferm Dig. 1997 Mar;89(3):229-30. Spanish. No abstract available.

PMID:
9198485
13.

[Intense icterus in the course of EBV infectious mononucleosis].

Baudet Arteaga JS, Mesa Lorenzo MC, Vela González M, Moreno García A, Morales González S, González Febles M, Avilés Ruiz JF.

Rev Esp Enferm Dig. 1996 Oct;88(10):709-11. Spanish.

PMID:
8983312

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