Hörtnagel K - Search Results

1

A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.

Suriyanarayanan S, Othman A, Dräger B, Schirmacher A, Young P, Mulahasanovic L, Hörtnagel K, Biskup S, von Eckardstein A, Hornemann T, Lone MA. Suriyanarayanan S, et al. Among authors: hortnagel k. Neuromolecular Med. 2019 Jun;21(2):182-191. doi: 10.1007/s12017-019-08534-w. Epub 2019 Apr 6. Neuromolecular Med. 2019. PMID: 30955194

2

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S. Dohrn MF, et al. Among authors: hortnagel k. J Neurochem. 2017 Dec;143(5):507-522. doi: 10.1111/jnc.14217. Epub 2017 Nov 7. J Neurochem. 2017. PMID: 28902413 Free article.

3

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J. Owczarek-Lipska M, et al. Among authors: hortnagel k. Mol Biol Rep. 2019 Aug;46(4):4507-4516. doi: 10.1007/s11033-019-04906-4. Epub 2019 Jul 3. Mol Biol Rep. 2019. PMID: 31270756

4

A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation.

Thomas C, Zühlsdorf A, Hörtnagel K, Mulahasanovic L, Grauer OM, Kümpers P, Wiendl H, Meuth SG. Thomas C, et al. Among authors: hortnagel k. Front Neurol. 2018 May 25;9:383. doi: 10.3389/fneur.2018.00383. eCollection 2018. Front Neurol. 2018. PMID: 29887830 Free PMC article.

5

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

Catarino CB, Vollmar C, Küpper C, Seelos K, Gallenmüller C, Bartkiewicz J, Biskup S, Hörtnagel K, Klopstock T. Catarino CB, et al. Among authors: hortnagel k. J Neurol. 2018 Feb;265(2):388-393. doi: 10.1007/s00415-017-8711-9. Epub 2017 Dec 19. J Neurol. 2018. PMID: 29260356

6

A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.

Hogrebe M, Murakami Y, Wild M, Ahlmann M, Biskup S, Hörtnagel K, Grüneberg M, Reunert J, Linden T, Kinoshita T, Marquardt T. Hogrebe M, et al. Among authors: hortnagel k. Am J Med Genet A. 2016 Dec;170(12):3319-3322. doi: 10.1002/ajmg.a.37950. Epub 2016 Sep 14. Am J Med Genet A. 2016. PMID: 27626616

7

The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.

Hörtnagel K, Krägeloh-Mann I, Bornemann A, Döcker M, Biskup S, Mayrhofer H, Battke F, du Bois G, Harzer K. Hörtnagel K, et al. J Inherit Metab Dis. 2016 Nov;39(6):849-857. doi: 10.1007/s10545-016-9961-x. Epub 2016 Jul 29. J Inherit Metab Dis. 2016. PMID: 27473128 Free PMC article.

8

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.

Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T. Park JH, et al. Among authors: hortnagel k. Am J Hum Genet. 2015 Dec 3;97(6):894-903. doi: 10.1016/j.ajhg.2015.11.003. Am J Hum Genet. 2015. PMID: 26637979 Free PMC article.

9

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

Dörre K, Olczak M, Wada Y, Sosicka P, Grüneberg M, Reunert J, Kurlemann G, Fiedler B, Biskup S, Hörtnagel K, Rust S, Marquardt T. Dörre K, et al. Among authors: hortnagel k. J Inherit Metab Dis. 2015 Sep;38(5):931-40. doi: 10.1007/s10545-015-9828-6. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778940

10

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Weckhuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group; Lemke JR, Héron D, Kluger G, Depienne C. Mignot C, et al. Among authors: hortnagel k. J Med Genet. 2016 Aug;53(8):511-22. doi: 10.1136/jmedgenet-2015-103451. Epub 2016 Mar 17. J Med Genet. 2016. PMID: 26989088

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