Schuelke M - Search Results

1

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J; SYNAPS Study Group; Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H. Efthymiou S, et al. Among authors: schuelke m. Brain. 2019 Oct 1;142(10):2948-2964. doi: 10.1093/brain/awz248. Brain. 2019. PMID: 31501903 Free PMC article.

2

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.

Hartig MB, Hörtnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, Rostasy K, Svetel M, Kostic VS, Schuelke M, Botz E, Weindl A, Novakovic I, Nardocci N, Prokisch H, Meitinger T. Hartig MB, et al. Among authors: schuelke m. Ann Neurol. 2006 Feb;59(2):248-56. doi: 10.1002/ana.20771. Ann Neurol. 2006. PMID: 16437574

3

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S. Dor T, et al. Among authors: schuelke m. J Med Genet. 2014 Feb;51(2):137-42. doi: 10.1136/jmedgenet-2013-102012. Epub 2013 Dec 6. J Med Genet. 2014. PMID: 24319291

4

Potassium channel KIR4.1-specific antibodies in children with acquired demyelinating CNS disease.

Kraus V, Srivastava R, Kalluri SR, Seidel U, Schuelke M, Schimmel M, Rostasy K, Leiz S, Hosie S, Grummel V, Hemmer B. Kraus V, et al. Among authors: schuelke m. Neurology. 2014 Feb 11;82(6):470-3. doi: 10.1212/WNL.0000000000000097. Epub 2014 Jan 10. Neurology. 2014. PMID: 24415573

5

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

Schottmann G, Jungbluth H, Schara U, Knierim E, Morales Gonzalez S, Gill E, Seifert F, Norwood F, Deshpande C, von Au K, Schuelke M, Senderek J. Schottmann G, et al. Among authors: schuelke m. Neurology. 2015 Feb 3;84(5):523-31. doi: 10.1212/WNL.0000000000001220. Epub 2015 Jan 7. Neurology. 2015. PMID: 25568292

6

Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).

Abdulhaq UN, Daana M, Dor T, Fellig Y, Eylon S, Schuelke M, Shaag A, Elpeleg O, Edvardson S. Abdulhaq UN, et al. Among authors: schuelke m. Muscle Nerve. 2016 Apr;53(4):564-9. doi: 10.1002/mus.24885. Epub 2015 Sep 3. Muscle Nerve. 2016. PMID: 26296490

7

Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency.

Rubio-Gozalbo ME, Smeitink JA, Ruitenbeek W, Ter Laak H, Mullaart RA, Schuelke M, Mariman EC, Sengers RC, Gabreëls FJ. Rubio-Gozalbo ME, et al. Among authors: schuelke m. Neurology. 1999 Jan 15;52(2):383-6. doi: 10.1212/wnl.52.2.383. Neurology. 1999. PMID: 9932961

8

Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy.

Schuelke M, Finckh B, Sistermans EA, Ausems MG, Hübner C, von Moers A. Schuelke M, et al. Neurology. 2000 Nov 28;55(10):1584-6. doi: 10.1212/wnl.55.10.1584. Neurology. 2000. PMID: 11094124

9

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloğlu H, Nürnberg P, Hübner C, Weschke B, Gärtner J. Uhlenberg B, et al. Among authors: schuelke m. Am J Hum Genet. 2004 Aug;75(2):251-60. doi: 10.1086/422763. Epub 2004 Jun 10. Am J Hum Genet. 2004. PMID: 15192806 Free PMC article.

10

Muscle and nerve pathology in Dunnigan familial partial lipodystrophy.

Spuler S, Kalbhenn T, Zabojszcza J, van Landeghem FK, Ludtke A, Wenzel K, Koehnlein M, Schuelke M, Lüdemann L, Schmidt HH. Spuler S, et al. Among authors: schuelke m. Neurology. 2007 Feb 27;68(9):677-83. doi: 10.1212/01.wnl.0000255939.73424.f8. Neurology. 2007. PMID: 17325275

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