Häusler M - Search Results

1

Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.

Meyer R, Begemann M, Demuth S, Kraft F, Dey D, Schüler H, Busse S, Häusler M, Zerres K, Kurth I, Eggermann T, Elbracht M. Meyer R, et al. Among authors: hausler m. Clin Genet. 2020 Oct;98(4):408-412. doi: 10.1111/cge.13819. Epub 2020 Aug 19. Clin Genet. 2020. PMID: 32720325

2

A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa.

Ramaekers VT, Senderek J, Häusler M, Häring M, Abeling N, Zerres K, Bergmann C, Heimann G, Blau N. Ramaekers VT, et al. Among authors: hausler m. Mol Genet Metab. 2001 Jun;73(2):179-87. doi: 10.1006/mgme.2001.3187. Mol Genet Metab. 2001. PMID: 11386854 Clinical Trial.

3

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: hausler m. Brain. 2003 Jul;126(Pt 7):1537-44. doi: 10.1093/brain/awg173. Epub 2003 May 21. Brain. 2003. PMID: 12805098 Review.

4

White-matter disease in 18q deletion (18q-) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination.

Häusler M, Anhuf D, Schüler H, Ramaekers VT, Thron A, Zerres K, Möller-Hartmann W. Häusler M, et al. Neuroradiology. 2005 Jan;47(1):83-6. doi: 10.1007/s00234-004-1309-9. Epub 2005 Jan 11. Neuroradiology. 2005. PMID: 15645149

5

A new case of proximal monosomy 1p36, extending the phenotype.

Rudnik-Schöneborn S, Zerres K, Häusler M, Lott A, Krings T, Schüler HM. Rudnik-Schöneborn S, et al. Among authors: hausler m. Am J Med Genet A. 2008 Aug 1;146A(15):2018-22. doi: 10.1002/ajmg.a.32405. Am J Med Genet A. 2008. PMID: 18627049 No abstract available.

6

Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype.

Rudnik-Schöneborn S, Weis J, Kress W, Häusler M, Zerres K. Rudnik-Schöneborn S, et al. Among authors: hausler m. Neuromuscul Disord. 2008 Nov;18(11):881-5. doi: 10.1016/j.nmd.2008.06.387. Epub 2008 Aug 5. Neuromuscul Disord. 2008. PMID: 18684626

7

Megalencephaly, mega corpus callosum, and complete lack of motor development: delineation of a rare syndrome.

Hengst M, Tücke J, Zerres K, Blaum M, Häusler M. Hengst M, et al. Among authors: hausler m. Am J Med Genet A. 2010 Sep;152A(9):2360-4. doi: 10.1002/ajmg.a.33577. Am J Med Genet A. 2010. PMID: 20803648

8

Cerebral folate deficiency: a neurometabolic syndrome?

Mangold S, Blau N, Opladen T, Steinfeld R, Wessling B, Zerres K, Häusler M. Mangold S, et al. Among authors: hausler m. Mol Genet Metab. 2011 Nov;104(3):369-72. doi: 10.1016/j.ymgme.2011.06.004. Epub 2011 Jun 14. Mol Genet Metab. 2011. PMID: 21737328

9

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: hausler m. Neuropediatrics. 2017 Apr;48(2):111-114. doi: 10.1055/s-0036-1597611. Epub 2016 Dec 26. Neuropediatrics. 2017. PMID: 28024309

10

Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?

Quade A, Wiesmann M, Weis J, Kurth I, Jalaie H, Rohrbach M, Häusler M. Quade A, et al. Among authors: hausler m. Pediatr Neurol. 2017 Sep;74:92-96. doi: 10.1016/j.pediatrneurol.2017.05.017. Epub 2017 May 29. Pediatr Neurol. 2017. PMID: 28739362

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