Mull M - Search Results

1

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.

Lausberg E, Gießelmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Demuth S, Haase C, Stollbrink-Peschgens C, Debray FG, Libioulle C, Choukair D, Oommen PT, Borkhardt A, Surowy H, Wieczorek D, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Häusler M, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F. Lausberg E, et al. Among authors: mull m. J Clin Invest. 2021 Jun 15;131(12):e143078. doi: 10.1172/JCI143078. J Clin Invest. 2021. PMID: 33945503 Free PMC article.

2

DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.

Karsai G, Kraft F, Haag N, Korenke GC, Hänisch B, Othman A, Suriyanarayanan S, Steiner R, Knopp C, Mull M, Bergmann M, Schröder JM, Weis J, Elbracht M, Begemann M, Hornemann T, Kurth I. Karsai G, et al. Among authors: mull m. J Clin Invest. 2019 Mar 1;129(3):1229-1239. doi: 10.1172/JCI124159. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620338 Free PMC article.

3

Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.

Elbracht M, Mull M, Wagner N, Kuhl C, Abicht A, Kurth I, Tenbrock K, Häusler M. Elbracht M, et al. Among authors: mull m. Neuropediatrics. 2017 Apr;48(2):111-114. doi: 10.1055/s-0036-1597611. Epub 2016 Dec 26. Neuropediatrics. 2017. PMID: 28024309

4

Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.

Elbracht M, Kraft F, Begemann M, Holschbach P, Mull M, Kabat IM, Müller B, Häusler M, Kurth I, Hehr U. Elbracht M, et al. Among authors: mull m. Mol Genet Genomic Med. 2018 Nov;6(6):1255-1260. doi: 10.1002/mgg3.490. Epub 2018 Nov 4. Mol Genet Genomic Med. 2018. PMID: 30393983 Free PMC article.

5

PDE10A mutation in two sisters with a hyperkinetic movement disorder - Response to levodopa.

Knopp C, Häusler M, Müller B, Damen R, Stoppe A, Mull M, Elbracht M, Kurth I, Begemann M. Knopp C, et al. Among authors: mull m. Parkinsonism Relat Disord. 2019 Jun;63:240-242. doi: 10.1016/j.parkreldis.2019.02.007. Epub 2019 Feb 10. Parkinsonism Relat Disord. 2019. PMID: 30777652 No abstract available.

6

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.

Bergmann C, Zerres K, Senderek J, Rudnik-Schoneborn S, Eggermann T, Häusler M, Mull M, Ramaekers VT. Bergmann C, et al. Among authors: mull m. Brain. 2003 Jul;126(Pt 7):1537-44. doi: 10.1093/brain/awg173. Epub 2003 May 21. Brain. 2003. PMID: 12805098 Review.

7

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

Werheid F, Azzedine H, Zwerenz E, Bozkurt A, Moeller MJ, Lin L, Mull M, Häusler M, Schulz JB, Weis J, Claeys KG. Werheid F, et al. Among authors: mull m. Brain Behav. 2016 Mar 4;6(4):e00451. doi: 10.1002/brb3.451. eCollection 2016 Apr. Brain Behav. 2016. PMID: 27088055 Free PMC article.

8

[Sensory Jacksonian seizures as initial manifestation of sarcoidosis].

Meincke U, Mull M, Weis J, Töpper R. Meincke U, et al. Among authors: mull m. Nervenarzt. 1996 Oct;67(10):883-5. doi: 10.1007/s001150050067. Nervenarzt. 1996. PMID: 9036363 German.

9

Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.

Ramantani G, Häusler M, Niggemann P, Wessling B, Guttmann H, Mull M, Tenbrock K, Lee-Kirsch MA. Ramantani G, et al. Among authors: mull m. J Child Neurol. 2011 Nov;26(11):1425-8. doi: 10.1177/0883073811408310. Epub 2011 Jun 13. J Child Neurol. 2011. PMID: 21670392

10

A cystic lesion within the dural sinuses: a rare cause of increased intracranial pressure.

Küker W, Mull M, Mayfrank L, Weis J, Schiefer J, Thron A. Küker W, et al. Among authors: mull m. Neuroradiology. 1997 Feb;39(2):132-5. doi: 10.1007/s002340050380. Neuroradiology. 1997. PMID: 9045975

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