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Items: 1 to 50 of 57

1.

mTORC1 and PKB/Akt control the muscle response to denervation by regulating autophagy and HDAC4.

Castets P, Rion N, Théodore M, Falcetta D, Lin S, Reischl M, Wild F, Guérard L, Eickhorst C, Brockhoff M, Guridi M, Ibebunjo C, Cruz J, Sinnreich M, Rudolf R, Glass DJ, Rüegg MA.

Nat Commun. 2019 Jul 18;10(1):3187. doi: 10.1038/s41467-019-11227-4.

PMID:
31320633
2.

Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report.

Sinnecker T, Andelova M, Mayr M, Rüegg S, Sinnreich M, Hench J, Frank S, Schaller A, Stippich C, Wuerfel J, Bonati LH.

BMC Neurol. 2019 May 8;19(1):91. doi: 10.1186/s12883-019-1306-6.

3.

Modular dispensability of dysferlin C2 domains reveals rational design for mini-dysferlin molecules.

Azakir BA, Di Fulvio S, Salomon S, Brockhoff M, Therrien C, Sinnreich M.

J Biol Chem. 2017 Jul 28;292(30):12543. doi: 10.1074/jbc.A112.391722. No abstract available.

4.

Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells.

Azakir BA, Di Fulvio S, Kinter J, Sinnreich M.

J Biol Chem. 2017 Jul 28;292(30):12542. doi: 10.1074/jbc.A111.329078. No abstract available.

5.

Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I.

Brockhoff M, Rion N, Chojnowska K, Wiktorowicz T, Eickhorst C, Erne B, Frank S, Angelini C, Furling D, Rüegg MA, Sinnreich M, Castets P.

J Clin Invest. 2017 Feb 1;127(2):549-563. doi: 10.1172/JCI89616. Epub 2017 Jan 9.

6.

Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic.

Pröbstel AK, Schaller A, Lieb J, Hench J, Frank S, Fuhr P, Kappos L, Sinnreich M.

Neurol Genet. 2016 Nov 17;2(6):e121. eCollection 2016 Dec.

7.

"Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders.

Castets P, Frank S, Sinnreich M, Rüegg MA.

J Neuromuscul Dis. 2016 May 27;3(2):127-155. Review.

8.

Identification of Plant-derived Alkaloids with Therapeutic Potential for Myotonic Dystrophy Type I.

Herrendorff R, Faleschini MT, Stiefvater A, Erne B, Wiktorowicz T, Kern F, Hamburger M, Potterat O, Kinter J, Sinnreich M.

J Biol Chem. 2016 Aug 12;291(33):17165-77. doi: 10.1074/jbc.M115.710616. Epub 2016 Jun 13.

9.

Guidelines on dermatomyositis--excerpt from the interdisciplinary S2k guidelines on myositis syndromes by the German Society of Neurology.

Sunderkötter C, Nast A, Worm M, Dengler R, Dörner T, Ganter H, Hohlfeld R, Melms A, Melzer N, Rösler K, Schmidt J, Sinnreich M, Walter MC, Wanschitz J, Wiendl H.

J Dtsch Dermatol Ges. 2016 Mar;14(3):321-38. doi: 10.1111/ddg.12909.

PMID:
26972210
10.

Ultrasound of the nerves - An appropriate addition to nerve conduction studies to differentiate paraproteinemic neuropathies.

Athanasopoulou IM, Rasenack M, Grimm C, Axer H, Sinnreich M, Décard BF, Grimm A.

J Neurol Sci. 2016 Mar 15;362:188-95. doi: 10.1016/j.jns.2016.01.055. Epub 2016 Jan 26.

PMID:
26944145
11.

Improved Muscle Function in Duchenne Muscular Dystrophy through L-Arginine and Metformin: An Investigator-Initiated, Open-Label, Single-Center, Proof-Of-Concept-Study.

Hafner P, Bonati U, Erne B, Schmid M, Rubino D, Pohlman U, Peters T, Rutz E, Frank S, Neuhaus C, Deuster S, Gloor M, Bieri O, Fischmann A, Sinnreich M, Gueven N, Fischer D.

PLoS One. 2016 Jan 22;11(1):e0147634. doi: 10.1371/journal.pone.0147634. eCollection 2016.

12.

Genetic characterization and improved genotyping of the dysferlin-deficient mouse strain Dysf (tm1Kcam).

Wiktorowicz T, Kinter J, Kobuke K, Campbell KP, Sinnreich M.

Skelet Muscle. 2015 Oct 13;5:32. doi: 10.1186/s13395-015-0057-3. eCollection 2015.

13.

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.

Petersen JA, Kuntzer T, Fischer D, von der Hagen M, Huebner A, Kana V, Lobrinus JA, Kress W, Rushing EJ, Sinnreich M, Jung HH.

BMC Neurol. 2015 Oct 6;15:182. doi: 10.1186/s12883-015-0449-3.

14.

Quantitative muscle MRI: A powerful surrogate outcome measure in Duchenne muscular dystrophy.

Bonati U, Hafner P, Schädelin S, Schmid M, Naduvilekoot Devasia A, Schroeder J, Zuesli S, Pohlman U, Neuhaus C, Klein A, Sinnreich M, Haas T, Gloor M, Bieri O, Fischmann A, Fischer D.

Neuromuscul Disord. 2015 Sep;25(9):679-85. doi: 10.1016/j.nmd.2015.05.006. Epub 2015 Jun 4.

PMID:
26096788
15.

[Muscle pain: what should you think?].

Sinnreich M.

Rev Med Suisse. 2015 Jan 28;11(459):319-20. German. No abstract available.

PMID:
25845194
16.

Nerve ultrasound for differentiation between amyotrophic lateral sclerosis and multifocal motor neuropathy.

Grimm A, Décard BF, Athanasopoulou I, Schweikert K, Sinnreich M, Axer H.

J Neurol. 2015;262(4):870-80. doi: 10.1007/s00415-015-7648-0. Epub 2015 Jan 28.

PMID:
25626722
17.

Proteasome inhibitors increase missense mutated dysferlin in patients with muscular dystrophy.

Azakir BA, Erne B, Di Fulvio S, Stirnimann G, Sinnreich M.

Sci Transl Med. 2014 Aug 20;6(250):250ra112. doi: 10.1126/scitranslmed.3009612. Epub 2014 Aug 20. Retraction in: Sci Transl Med. 2017 Jun 7;9(393):null.

18.

Molecular targets to treat muscular dystrophies.

Kinter J, Sinnreich M.

Swiss Med Wkly. 2014 Feb 19;144:w13916. doi: 10.4414/smw.2014.13916. Review.

19.

Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome.

Peyer AK, Abicht A, Heinimann K, Sinnreich M, Fischer D.

Neuromuscul Disord. 2013 Jul;23(7):571-4. doi: 10.1016/j.nmd.2013.04.001. Epub 2013 May 18.

PMID:
23688972
20.

Rapamycin attenuates the progression of tau pathology in P301S tau transgenic mice.

Ozcelik S, Fraser G, Castets P, Schaeffer V, Skachokova Z, Breu K, Clavaguera F, Sinnreich M, Kappos L, Goedert M, Tolnay M, Winkler DT.

PLoS One. 2013 May 7;8(5):e62459. doi: 10.1371/journal.pone.0062459. Print 2013.

21.

Sustained activation of mTORC1 in skeletal muscle inhibits constitutive and starvation-induced autophagy and causes a severe, late-onset myopathy.

Castets P, Lin S, Rion N, Di Fulvio S, Romanino K, Guridi M, Frank S, Tintignac LA, Sinnreich M, Rüegg MA.

Cell Metab. 2013 May 7;17(5):731-44. doi: 10.1016/j.cmet.2013.03.015. Epub 2013 Apr 18.

22.

GNE-Related Myopathy.

O'Ferrall EK, Sinnreich M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2004 Mar 26 [updated 2013 Mar 7].

23.

Lower motor neuron syndrome due to cauda equina hypertrophy with onion bulbs.

O'Ferrall EK, Gendron D, Guiot MC, Hall J, Sinnreich M.

Muscle Nerve. 2013 Aug;48(2):301-5. doi: 10.1002/mus.23816. Epub 2013 Jun 29.

PMID:
23424031
24.

Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia.

Peyer AK, Kinter J, Hench J, Frank S, Fuhr P, Thomann S, Fischmann A, Kneifel S, Camaño P, López de Munain A, Sinnreich M, Renaud S.

Neuromuscul Disord. 2013 Feb;23(2):149-54. doi: 10.1016/j.nmd.2012.09.009. Epub 2012 Nov 8.

PMID:
23140793
25.

Modular dispensability of dysferlin C2 domains reveals rational design for mini-dysferlin molecules.

Azakir BA, Di Fulvio S, Salomon S, Brockhoff M, Therrien C, Sinnreich M.

J Biol Chem. 2012 Aug 10;287(33):27629-36. doi: 10.1074/jbc.M112.391722. Epub 2012 Jun 26. Retraction in: J Biol Chem. 2017 Jul 28;292(30):12543.

26.

Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells.

Azakir BA, Di Fulvio S, Kinter J, Sinnreich M.

J Biol Chem. 2012 Mar 23;287(13):10344-54. doi: 10.1074/jbc.M111.329078. Epub 2012 Feb 8. Retraction in: J Biol Chem. 2017 Jul 28;292(30):12542.

27.

Dysferlin interacts with histone deacetylase 6 and increases alpha-tubulin acetylation.

Di Fulvio S, Azakir BA, Therrien C, Sinnreich M.

PLoS One. 2011;6(12):e28563. doi: 10.1371/journal.pone.0028563. Epub 2011 Dec 8. Retraction in: PLoS One. 2018 Jan 29;13(1):e0192239.

28.

Gene expression profiling in nerve biopsy of vasculitic neuropathy.

Kinter J, Broglio L, Steck AJ, Tolnay M, Fuhr P, Latov N, Kalbermatten D, Sinnreich M, Schaeren-Wiemers N, Renaud S.

J Neuroimmunol. 2010 Aug 25;225(1-2):184-9. doi: 10.1016/j.jneuroim.2010.05.023. Epub 2010 Jun 12.

PMID:
20542337
29.

Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle.

Azakir BA, Di Fulvio S, Therrien C, Sinnreich M.

PLoS One. 2010 Apr 12;5(4):e10122. doi: 10.1371/journal.pone.0010122.

30.

Minocycline-induced dermatomyositis.

Geddes MR, Sinnreich M, Chalk C.

Muscle Nerve. 2010 Apr;41(4):547-9. doi: 10.1002/mus.21487.

PMID:
20120014
31.

The role of muscle biopsy in the age of genetic testing.

O'Ferrall EK, Sinnreich M.

Curr Opin Neurol. 2009 Oct;22(5):543-53. doi: 10.1097/WCO.0b013e32832ffc60. Review.

PMID:
19745731
32.

Characterization of lipid binding specificities of dysferlin C2 domains reveals novel interactions with phosphoinositides.

Therrien C, Di Fulvio S, Pickles S, Sinnreich M.

Biochemistry. 2009 Mar 24;48(11):2377-84. doi: 10.1021/bi802242r.

PMID:
19253956
33.

The mitochondrial phenotype of peripheral muscle in chronic obstructive pulmonary disease: disuse or dysfunction?

Picard M, Godin R, Sinnreich M, Baril J, Bourbeau J, Perrault H, Taivassalo T, Burelle Y.

Am J Respir Crit Care Med. 2008 Nov 15;178(10):1040-7. doi: 10.1164/rccm.200807-1005OC. Epub 2008 Aug 28.

PMID:
18755922
34.

Danon disease due to a novel splice mutation in the LAMP2 gene.

Nadeau A, Therrien C, Karpati G, Sinnreich M.

Muscle Nerve. 2008 Mar;37(3):338-42.

PMID:
18004770
35.

Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.

Therrien C, Dodig D, Karpati G, Sinnreich M.

J Neurol Sci. 2006 Dec 1;250(1-2):71-8. Epub 2006 Sep 22.

PMID:
16996541
36.

[Mechanisms leading to muscle degeneration: molecular mechanisms and therapeutical forecasts].

Kuntzer T, Bader CR, Sinnreich M.

Rev Med Suisse. 2006 May 3;2(64):1174-7. Review. French.

PMID:
16734189
37.

Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy.

Sinnreich M, Therrien C, Karpati G.

Neurology. 2006 Apr 11;66(7):1114-6.

PMID:
16606933
38.

Localization of coxsackie virus and adenovirus receptor (CAR) in normal and regenerating human muscle.

Sinnreich M, Shaw CA, Pari G, Nalbantoglu J, Holland PC, Karpati G.

Neuromuscul Disord. 2005 Aug;15(8):541-8.

PMID:
16014330
39.

Diabetic neuropathies. Classification, clinical features, and pathophysiological basis.

Sinnreich M, Taylor BV, Dyck PJ.

Neurologist. 2005 Mar;11(2):63-79. Review.

PMID:
15733329
40.

Chronic immune sensory polyradiculopathy: a possibly treatable sensory ataxia.

Sinnreich M, Klein CJ, Daube JR, Engelstad J, Spinner RJ, Dyck PJ.

Neurology. 2004 Nov 9;63(9):1662-9.

PMID:
15534252
41.

Isoform-specific expression of the Coxsackie and adenovirus receptor (CAR) in neuromuscular junction and cardiac intercalated discs.

Shaw CA, Holland PC, Sinnreich M, Allen C, Sollerbrant K, Karpati G, Nalbantoglu J.

BMC Cell Biol. 2004 Nov 8;5(1):42.

42.

Neurologic course, endocrine dysfunction and triplet repeat size in spinal bulbar muscular atrophy.

Sinnreich M, Sorenson EJ, Klein CJ.

Can J Neurol Sci. 2004 Aug;31(3):378-82.

PMID:
15376484
43.

Bulbospinal muscular atrophy: Kennedy's disease.

Sinnreich M, Klein CJ.

Arch Neurol. 2004 Aug;61(8):1324-6. No abstract available.

PMID:
15313856
44.

A clever road from myopathology to genes: the myotilin story.

Karpati G, Sinnreich M.

Neurology. 2004 Apr 27;62(8):1248-9. No abstract available.

PMID:
15111657
45.

[Quiz case].

Burkhard PR, Masouyé I, Sinnreich M, Harms M.

Rev Med Suisse Romande. 2003 Jan;123(1):75-6. French. No abstract available.

PMID:
15095731
46.

Prothrombin overexpressed in post-natal neurones requires blood factors for activation in the mouse brain.

Sinnreich M, Meins M, Niclou SP, Suidan HS, Monard D.

J Neurochem. 2004 Mar;88(6):1380-8.

47.

The molecular era of myology.

Karpati G, Sinnreich M.

J Neuropathol Exp Neurol. 2003 Dec;62(12):1203-10. Review.

PMID:
14692696
48.

The effect of aging on postural stability: a cross sectional and longitudinal study.

Du Pasquier RA, Blanc Y, Sinnreich M, Landis T, Burkhard P, Vingerhoets FJ.

Neurophysiol Clin. 2003 Nov;33(5):213-8.

PMID:
14672821
49.

Bilateral optic ischemic neuropathy related to chronic hepatitis C-associated anticardiolipin antibodies.

Sinnreich M, Rossillion B, Landis T, Burkhard PR, Sztajzel R.

Eur Neurol. 2003;49(4):243-5. No abstract available.

PMID:
12736543
50.

Indifference rather than insensitivity to pain.

Klein CJ, Sinnreich M, Dyck PJ.

Ann Neurol. 2003 Mar;53(3):417-8; author reply 418-9. No abstract available.

PMID:
12601714

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