Search Results - "Prokisch H"

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Exomdiagnostik verändert die Sicht auf Mitochondriopathien.

Alternate Title: Exome diagnostics are changing our view of mitochondrial diseases.

Authors: Prokisch, H. Oexle, K. Meitinger, T.

Source: Medizinische Genetik. Sep2012, Vol. 24 Issue 3, p183-186. 4p.

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

Authors: Steenweg ME Ghezzi D Haack T et al.

Source: Brain: A Journal of Neurology; May2012, Vol. 135 Issue 5, p1387-1394, 8p

Large-scale mutation screening in combination with lentiviral complementation of rare variants aid gene identification in mitochondrial disorders

Authors: Prokisch⁎, H. Haack, T. Madignier, F. et al.

Source: Mitochondrion. Jul2011, Vol. 11 Issue 4, p660-660. 1p.

Leigh Disease with Brainstem Involvement in Complex I Deficiency due to Assembly Factor NDUFAF2 Defect.

Authors: Herzer, M. Koch, J. Prokisch, H. et al.

Source: Neuropediatrics. Feb2010, Vol. 41 Issue 1, p30-34. 5p.

Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET).

Alternate Title: The German Network for Mitochondrial Disorders (mitoNET).

Authors: Büchner, B. Gallenmüller, C. Lautenschläger, R. et al.

Source: Medizinische Genetik. Sep2012, Vol. 24 Issue 3, p193-199. 7p.

DJ-1-deficient mice show less TH-positive neurons in the ventral tegmental area and exhibit non-motoric behavioural impairments.

Authors: Pham, T. T. Giesert, F. Röthig, A. et al.

Source: Genes, Brain & Behavior. Apr2010, Vol. 9 Issue 3, p305-317. 13p. 1 Diagram, 1 Chart, 3 Graphs.

SFP CO-68 - ACAD9 : rôle dual dans le métabolisme énergétique mitochondrial.

Authors: Schiff, M. Goetzman, E. Prokisch, H. et al.

Source: Archives de Pédiatrie. May2014 Supplement 1, Vol. 21 Issue 5, p646-646. 1p.

A common atopy-associated variant in the Th2 cytokine locus control region impacts transcriptional regulation and alters SMAD3 and SP1 binding.

Authors: Kretschmer, A. Möller, G. Lee, H. et al.

Source: Allergy. May2014, Vol. 69 Issue 5, p632-642. 11p.

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.

Authors: Deschauer, M. Gaul, C. Behrmann, C. et al.

Source: Journal of Neurology. Nov2012, Vol. 259 Issue 11, p2434-2439. 6p. 1 Color Photograph, 2 Black and White Photographs.

Low-frequency rTMS of the premotor cortex reduces complex movement patterns in a patient with pantothenate kinase-associated neurodegenerative disease (PKAN)

Alternate Title: La stimulation magnétique répétitive à basse fréquence du cortex prémoteur diminue les mouvements complexes chez un patient atteint de neurodégénérescence associée à un déficit en pantothénate-kinase (PKAN)

Authors: Mylius, V. Gerstner, A. Peters, M. et al.

Source: Clinical Neurophysiology / Neurophysiologie Clinique. Feb2009, Vol. 39 Issue 1, p27-30. 4p.

Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy

Authors: Elstner, M. Schmidt, C. Zingler, V.C. et al.

Source: Biochemical & Biophysical Research Communications. Dec2008, Vol. 377 Issue 2, p379-383. 5p.

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).

Authors: Horváth, R. Abicht, A. Holinski-Feder54, E. et al.

Source: Journal of Neurology, Neurosurgery & Psychiatry. Jan2006, Vol. 77 Issue 1, p74-76. 3p.

Bezafibrate as treatment option in patients with mitochondrial complex I deficiency.

Authors: Freisinger, P. Haberberger, B. Strecker, V. et al.

Source: Mitochondrion. Nov2013, Vol. 13 Issue 6, p920-921. 2p.

M.P.3.03 Treatment of myopathic form of coenzyme Q10 deficiency caused by electron-transferring-flavoprotein dehydrogenase (ETFDH) gene mutations

Authors: Topaloglu, H. Gempel, K. Talim, B. et al.

Source: Neuromuscular Disorders. Oct2007, Vol. 17 Issue 9/10, p827-828. 2p.

M17 - Novel GFM2 variants identified in two cases of early-onset mitochondrial disease cause impaired expression of mtDNA encoded OXPHOS subunits.

Authors: Glasgow, R.I.C. Thompson, K. He, L. et al.

Source: Neuromuscular Disorders. Mar2017 Supplement 1, Vol. 27, pS22-S22. 1p.

Cofactor deficiency in mitochondrial diseases.

Authors: Mataković, Lavinija Feichtinger, R. Sperl, W. et al.

Source: BBA - Bioenergetics. Aug2016 Supplement, Vol. 1857, pe97-e97. 1p.

Exome sequencing as an approach to identify disease causing mutations in pediatric patients with mitochondrial diseases.

Authors: Haack, T. Strom, T. Freisinger, P. et al.

Source: Mitochondrion. Nov2013, Vol. 13 Issue 6, p920-920. 1p.

Phenotypic spectrum of 7 patients and 4 novel MTFMT mutations.

Authors: Freisinger, P. Haack, T. Mayr, J. et al.

Source: Mitochondrion. Nov2013, Vol. 13 Issue 6, p920-920. 1p.

Thiamine-pyrophosphokinase-deficiency: Clinical and genotypic spectrum in 5 patients.

Authors: Freisinger, P. Mayr, J.A. Scheffner, T. et al.

Source: Mitochondrion. Nov2013, Vol. 13 Issue 6, p921-921. 1p.