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Diagnosis and Management of Mitochondrial Disorders
Material Type:
Libro
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Diagnosis and Management of Mitochondrial Disorders

Michelangelo Mancuso editor.; Thomas Klopstock editor.

Cham : Springer International Publishing : Imprint: Springer ; 2019

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2
Material Type:
Articolo
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Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion

Yu - Wai - Man, Patrick ; Hudson, Gavin ; Klopstock, Thomas ; Chinnery, Patrick F

Brain, 2016, Vol. 139(3), pp.e18-e18 [Rivista Peer Reviewed]

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3
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Articolo
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Paranoid delusion as lead symptom in two siblings with late-onset Tay–Sachs disease and a novel mutation in the HEXA gene

Stendel, Claudia ; Gallenmüller, Constanze ; Peters, Katrin ; Bürger, Friederike ; Gramer, Gwendolyn ; Biskup, Saskia ; Klopstock, Thomas

Journal of Neurology, 2015, Vol.262(4), pp.1072-1073 [Rivista Peer Reviewed]

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4
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Articolo
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Effects of acetyl- dl -leucine in patients with cerebellar ataxia: a case series

Strupp, Michael ; Teufel, Julian ; Habs, Maximilian ; Feuerecker, Regina ; Muth, Carolin ; Warrenburg, Bart ; Klopstock, Thomas ; Feil, Katharina

Journal of Neurology, 2013, Vol.260(10), pp.2556-2561 [Rivista Peer Reviewed]

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5
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Articolo
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Creatine Protects against Excitoxicity in an In Vitro Model of Neurodegeneration (Creatine Protects against Excitoxicity)

Genius, Just ; Geiger, Johanna ; Bender, Andreas ; Möller, Hans-Jürgen ; Klopstock, Thomas ; Rujescu, Dan ; Blagosklonny, Mikhail V. (Editor)

PLoS ONE, 2012, Vol.7(2), p.e30554 [Rivista Peer Reviewed]

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6
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Articolo
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Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia

Kuhm, Christoph ; Gallenmüller, Constanze ; Dörk, Thilo ; Menzel, Moritz ; Biskup, Saskia ; Klopstock, Thomas

Journal of Neurology, 2015, Vol.262(3), pp.768-770 [Rivista Peer Reviewed]

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7
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Articolo
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Creatine for neuroprotection in neurodegenerative disease: end of story?

Bender, Andreas ; Klopstock, Thomas

Amino Acids, 2016, Vol.48(8), pp.1929-1940 [Rivista Peer Reviewed]

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8
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Articolo
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Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 ( FAM36A ) mutation

Doss, Sarah ; Lohmann, Katja ; Seibler, Philip ; Arns, Björn ; Klopstock, Thomas ; Zühlke, Christine ; Freimann, Karen ; Winkler, Susen ; Lohnau, Thora ; Drungowski, Mario ; Nürnberg, Peter ; Wiegers, Karin ; Lohmann, Ebba ; Naz, Sadaf ; Kasten, Meike ; Bohner, Georg ; Ramirez, Alfredo ; Endres, Matthias ; Klein, Christine

Journal of Neurology, 2014, Vol.261(1), pp.207-212 [Rivista Peer Reviewed]

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9
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Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia

Boesch, Sylvia ; Nachbauer, Wolfgang ; Mariotti, Caterina ; Sacca, Francesco ; Filla, Alessandro ; Klockgether, Thomas ; Klopstock, Thomas ; Schöls, Ludger ; Jacobi, Heike ; Büchner, Boriana ; Hagen, Jennifer Müller ; Nanetti, Lorenzo ; Manicom, Karen

Movement Disorders, June 2014, Vol.29(7), pp.935-939 [Rivista Peer Reviewed]

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10
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MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy

Becker, Lore ; Kling, Eva ; Schiller, Evelyn ; Zeh, Ramona ; Schrewe, Anja ; Hölter, Sabine M ; Mossbrugger, Ilona ; Calzada-Wack, Julia ; Strecker, Valentina ; Wittig, Ilka ; Dumitru, Iulia ; Wenz, Tina ; Bender, Andreas ; Aichler, Michaela ; Janik, Dirk ; Neff, Frauke ; Walch, Axel ; Quintanilla-Fend, Leticia ; Floss

PloS one, 2014, Vol.9(12), pp.e114918 [Rivista Peer Reviewed]

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da questo autore/creatore:

  1. Klopstock, Thomas
  2. Klopstock, T.
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