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Congenital myasthenic syndromes.

Finsterer J. Finsterer J. Orphanet J Rare Dis. 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. Orphanet J Rare Dis. 2019. PMID: 30808424 Free PMC article.

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Neuromuscular implications in CADASIL.

Finsterer J. Finsterer J. Cerebrovasc Dis. 2007;24(5):401-4. doi: 10.1159/000108428. Epub 2007 Sep 18. Cerebrovasc Dis. 2007. PMID: 17878719 Review.

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Primary periodic paralyses.

Finsterer J. Finsterer J. Acta Neurol Scand. 2008 Mar;117(3):145-58. doi: 10.1111/j.1600-0404.2007.00963.x. Epub 2007 Nov 20. Acta Neurol Scand. 2008. PMID: 18031562 Review.

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Cardiac findings in congenital muscular dystrophies.

Finsterer J, Ramaciotti C, Wang CH, Wahbi K, Rosenthal D, Duboc D, Melacini P. Finsterer J, et al. Pediatrics. 2010 Sep;126(3):538-45. doi: 10.1542/peds.2010-0208. Epub 2010 Aug 2. Pediatrics. 2010. PMID: 20679303 Review.

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Motor neuron, nerve, and neuromuscular junction disease.

Finsterer J, Papić L, Auer-Grumbach M. Finsterer J, et al. Curr Opin Neurol. 2011 Oct;24(5):469-74. doi: 10.1097/WCO.0b013e32834a9448. Curr Opin Neurol. 2011. PMID: 21825986 Review.

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Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Finsterer J, et al. J Neurol Sci. 2012 Jul 15;318(1-2):1-18. doi: 10.1016/j.jns.2012.03.025. Epub 2012 May 1. J Neurol Sci. 2012. PMID: 22554690 Review.

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Mitochondrial epilepsy in pediatric and adult patients.

Finsterer J, Zarrouk Mahjoub S. Finsterer J, et al. Acta Neurol Scand. 2013 Sep;128(3):141-52. doi: 10.1111/ane.12122. Epub 2013 Mar 9. Acta Neurol Scand. 2013. PMID: 23480231 Review.

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Disappearance of congenital noncompaction in hereditary cobalamin-C-deficiency 2.5 years after birth.

Finsterer J, Stöllberger C. Finsterer J, et al. J Inherit Metab Dis. 2013 Nov;36(6):1083-4. doi: 10.1007/s10545-013-9612-4. Epub 2013 Apr 30. J Inherit Metab Dis. 2013. PMID: 23632993 No abstract available.

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Mitochondrial depletion syndromes in children and adults.

Finsterer J, Ahting U. Finsterer J, et al. Can J Neurol Sci. 2013 Sep;40(5):635-44. doi: 10.1017/s0317167100014852. Can J Neurol Sci. 2013. PMID: 23968935 Review.

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Cardiac manifestations of primary mitochondrial disorders.

Finsterer J, Kothari S. Finsterer J, et al. Int J Cardiol. 2014 Dec 20;177(3):754-63. doi: 10.1016/j.ijcard.2014.11.014. Epub 2014 Nov 5. Int J Cardiol. 2014. PMID: 25465824 Review.

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