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Items: 28


Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.

Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T; ATP6 Study Group.

Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb.


Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R.

Hum Mutat. 2017 Nov;38(11):1477-1484. doi: 10.1002/humu.23297. Epub 2017 Aug 17.


LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW.

Brain. 2015 Dec;138(Pt 12):3503-19. doi: 10.1093/brain/awv291. Epub 2015 Oct 27.


Lingual muscle activity across sleep-wake States in rats with surgically altered upper airway.

Rukhadze I, Kalter J, Stettner GM, Kubin L.

Front Neurol. 2014 Apr 28;5:61. doi: 10.3389/fneur.2014.00061. eCollection 2014.


Time- and behavioral state-dependent changes in posterior hypothalamic GABAA receptors contribute to the regulation of sleep.

Volgin DV, Lu JW, Stettner GM, Mann GL, Ross RJ, Morrison AR, Kubin L.

PLoS One. 2014 Jan 21;9(1):e86545. doi: 10.1371/journal.pone.0086545. eCollection 2014.


Somatropin treatment of spinal muscular atrophy: a placebo-controlled, double-blind crossover pilot study.

Kirschner J, Schorling D, Hauschke D, Rensing-Zimmermann C, Wein U, Grieben U, Schottmann G, Schara U, Konrad K, Müller-Felber W, Thiele S, Wilichowski E, Hobbiebrunken E, Stettner GM, Korinthenberg R.

Neuromuscul Disord. 2014 Feb;24(2):134-42. doi: 10.1016/j.nmd.2013.10.011. Epub 2013 Nov 13.


Loss of motoneurons in the ventral compartment of the rat hypoglossal nucleus following early postnatal exposure to alcohol.

Stettner GM, Kubin L, Volgin DV.

J Chem Neuroanat. 2013 Sep;52:87-94. doi: 10.1016/j.jchemneu.2013.07.003. Epub 2013 Aug 8.


Respiratory modulation of lingual muscle activity across sleep-wake states in rats.

Stettner GM, Rukhadze I, Mann GL, Lei Y, Kubin L.

Respir Physiol Neurobiol. 2013 Sep 15;188(3):308-17. doi: 10.1016/j.resp.2013.05.033. Epub 2013 May 31.


Circadian dependence of receptors that mediate wake-related excitatory drive to hypoglossal motoneurons.

Volgin DV, Stettner GM, Kubin L.

Respir Physiol Neurobiol. 2013 Sep 15;188(3):301-7. doi: 10.1016/j.resp.2013.04.024. Epub 2013 May 9.


Evidence that adrenergic ventrolateral medullary cells are activated whereas precerebellar lateral reticular nucleus neurons are suppressed during REM sleep.

Stettner GM, Lei Y, Benincasa Herr K, Kubin L.

PLoS One. 2013 Apr 22;8(4):e62410. doi: 10.1371/journal.pone.0062410. Print 2013.


Reduced c-Fos expression in medullary catecholaminergic neurons in rats 20 h after exposure to chronic intermittent hypoxia.

Herr KB, Stettner GM, Kubin L.

Am J Physiol Regul Integr Comp Physiol. 2013 Apr 1;304(7):R514-22. doi: 10.1152/ajpregu.00542.2012. Epub 2013 Jan 30.


Antagonism of orexin receptors in the posterior hypothalamus reduces hypoglossal and cardiorespiratory excitation from the perifornical hypothalamus.

Stettner GM, Kubin L.

J Appl Physiol (1985). 2013 Jan 1;114(1):119-30. doi: 10.1152/japplphysiol.00965.2012. Epub 2012 Oct 25.


Effect of chronic intermittent hypoxia on noradrenergic activation of hypoglossal motoneurons.

Stettner GM, Fenik VB, Kubin L.

J Appl Physiol (1985). 2012 Jan;112(2):305-12. doi: 10.1152/japplphysiol.00697.2011. Epub 2011 Oct 20.


Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.

Stettner GM, Shoukier M, Höger C, Brockmann K, Auber B.

Am J Med Genet A. 2011 Aug;155A(8):2003-7. doi: 10.1002/ajmg.a.34122. Epub 2011 Jul 7.


Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.

Rotthier A, Penno A, Rautenstrauss B, Auer-Grumbach M, Stettner GM, Asselbergh B, Van Hoof K, Sticht H, Lévy N, Timmerman V, Hornemann T, Janssens K.

Hum Mutat. 2011 Jun;32(6):E2211-25. doi: 10.1002/humu.21481. Epub 2011 Feb 24.


Antagonism of orexin 1 receptors eliminates motor hyperactivity and improves homing response acquisition in juvenile rats exposed to alcohol during early postnatal period.

Stettner GM, Kubin L, Volgin DV.

Behav Brain Res. 2011 Aug 1;221(1):324-8. doi: 10.1016/j.bbr.2011.03.028. Epub 2011 Mar 21.


REM sleep-like episodes of motoneuronal depression and respiratory rate increase are triggered by pontine carbachol microinjections in in situ perfused rat brainstem preparation.

Brandes IF, Stettner GM, Mörschel M, Kubin L, Dutschmann M.

Exp Physiol. 2011 May;96(5):548-55. doi: 10.1113/expphysiol.2010.056242. Epub 2011 Feb 18.


Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome.

Stettner GM, Viscomi C, Zeviani M, Wilichowski E, Dutschmann M.

Mitochondrion. 2011 May;11(3):413-20. doi: 10.1016/j.mito.2010.12.011. Epub 2010 Dec 16.


Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial.

Kirschner J, Schessl J, Schara U, Reitter B, Stettner GM, Hobbiebrunken E, Wilichowski E, Bernert G, Weiss S, Stehling F, Wiegand G, Müller-Felber W, Thiele S, Grieben U, von der Hagen M, Lütschg J, Schmoor C, Ihorst G, Korinthenberg R.

Lancet Neurol. 2010 Nov;9(11):1053-9. doi: 10.1016/S1474-4422(10)70196-4. Epub 2010 Aug 26.


Upper airway dysfunction of Tau-P301L mice correlates with tauopathy in midbrain and ponto-medullary brainstem nuclei.

Dutschmann M, Menuet C, Stettner GM, Gestreau C, Borghgraef P, Devijver H, Gielis L, Hilaire G, Van Leuven F.

J Neurosci. 2010 Feb 3;30(5):1810-21. doi: 10.1523/JNEUROSCI.5261-09.2010.


Postnatal emergence of synaptic plasticity associated with dynamic adaptation of the respiratory motor pattern.

Dutschmann M, Mörschel M, Reuter J, Zhang W, Gestreau C, Stettner GM, Kron M.

Respir Physiol Neurobiol. 2008 Dec 10;164(1-2):72-9. doi: 10.1016/j.resp.2008.06.013. Review.


8-OH-DPAT suppresses spontaneous central apneas in the C57BL/6J mouse strain.

Stettner GM, Zanella S, Hilaire G, Dutschmann M.

Respir Physiol Neurobiol. 2008 Mar 20;161(1):10-5. Epub 2007 Nov 17.


Disturbances of breathing in Rett syndrome: results from patients and animal models.

Stettner GM, Huppke P, Gärtner J, Richter DW, Dutschmann M.

Adv Exp Med Biol. 2008;605:503-7. No abstract available.


Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.

Huehne K, Zweier C, Raab K, Odent S, Bonnaure-Mallet M, Sixou JL, Landrieu P, Goizet C, Sarlangue J, Baumann M, Eggermann T, Rauch A, Ruppert S, Stettner GM, Rautenstrauss B.

Neuromuscul Disord. 2008 Feb;18(2):159-66. Epub 2008 Feb 20.


Spontaneous central apneas occur in the C57BL/6J mouse strain.

Stettner GM, Zanella S, Huppke P, Gärtner J, Hilaire G, Dutschmann M.

Respir Physiol Neurobiol. 2008 Jan 1;160(1):21-7. Epub 2007 Aug 6.


Infratentorial meningioma in an 8-year-old child as first sign of neurofibromatosis type 2.

Stettner GM, Rostasy KM, Ludwig HC, Merkler D, Fahsold R, Gärtner J.

Neuropediatrics. 2007 Feb;38(1):29-31.


Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2-/y knockout mice.

Stettner GM, Huppke P, Brendel C, Richter DW, Gärtner J, Dutschmann M.

J Physiol. 2007 Mar 15;579(Pt 3):863-76. Epub 2007 Jan 4.


Treatment of epilepsy in Rett syndrome.

Huppke P, Köhler K, Brockmann K, Stettner GM, Gärtner J.

Eur J Paediatr Neurol. 2007 Jan;11(1):10-6. Epub 2006 Dec 18.


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