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Items: 1 to 20 of 126

1.

Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene.

Ferbert A, Zibat A, Rautenstrauß B, Kress W, Hügens-Penzel M, Weis J, Shah Y, Roth C.

Neuromuscul Disord. 2016 Jun 22. pii: S0960-8966(15)30098-5. doi: 10.1016/j.nmd.2016.06.458. [Epub ahead of print]

PMID:
27469267
2.

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.

Suriyanarayanan S, Auranen M, Toppila J, Paetau A, Shcherbii M, Palin E, Wei Y, Lohioja T, Schlotter-Weigel B, Schön U, Abicht A, Rautenstrauss B, Tyynismaa H, Walter MC, Hornemann T, Ylikallio E.

Neuromolecular Med. 2016 Mar;18(1):81-90. doi: 10.1007/s12017-015-8379-1. Epub 2015 Nov 16.

PMID:
26573920
3.

Hallucinations and delusions are frequently reported in individuals with Dravet syndrome.

Martin JP, Kümmerle A, Rautenstrauß B.

Epilepsy Behav. 2015 Nov;52(Pt A):222-4. doi: 10.1016/j.yebeh.2015.09.013. Epub 2015 Nov 6. No abstract available.

PMID:
26469797
4.

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Sereda MW, Lupski JR.

Genet Med. 2016 May;18(5):443-51. doi: 10.1038/gim.2015.124. Epub 2015 Sep 17.

PMID:
26378787
5.

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J.

Nat Genet. 2015 Aug;47(8):962. doi: 10.1038/ng0815-962b. No abstract available.

PMID:
26220135
6.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Safka Brozkova D, Deconinck T, Griffin LB, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, Antonellis A, Beg AA, De Jonghe P, Senderek J, Seeman P, Baets J.

Brain. 2015 Aug;138(Pt 8):2161-72. doi: 10.1093/brain/awv158. Epub 2015 Jun 13.

7.

Transcriptional regulator PRDM12 is essential for human pain perception.

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J.

Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25. Erratum in: Nat Genet. 2015 Aug;47(8):962.

PMID:
26005867
8.

A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype.

Leal A, Berghoff C, Berghoff M, Rojas-Araya M, Carolina O, Heuss D, Del Valle G, Rautenstrauss B.

Rev Biol Trop. 2014 Dec;62(4):1285-93.

PMID:
25720167
9.

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients.

Mannil M, Solari A, Leha A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Walter MC, Rautenstrauss B, Schnizer TJ, Schenone A, Seeman P, Kadian C, Schreiber O, Angarita NG, Fabrizi GM, Gemignani F, Padua L, Santoro L, Quattrone A, Vita G, Calabrese D; CMT-TRIAAL/CMT-TRAUK Group, Young P, Laurà M, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Shy ME, Reilly MM, Pareyson D, Sereda MW.

Neuromuscul Disord. 2014 Nov;24(11):1003-17. doi: 10.1016/j.nmd.2014.06.431. Epub 2014 Jun 19.

PMID:
25085517
10.

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.

Boizot A, Talmat-Amar Y, Morrogh D, Kuntz NL, Halbert C, Chabrol B, Houlden H, Stojkovic T, Schulman BA, Rautenstrauss B, Bomont P.

Acta Neuropathol Commun. 2014 Apr 24;2:47. doi: 10.1186/2051-5960-2-47.

11.

Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene.

Roth C, Freilinger T, Kirovski G, Dunkel J, Shah Y, Wilken B, Rautenstrauß B, Ferbert A.

Cephalalgia. 2014 Mar;34(3):183-90. doi: 10.1177/0333102413506128. Epub 2013 Oct 4.

PMID:
24096472
12.

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.

Schreiber O, Schneiderat P, Kress W, Rautenstrauss B, Senderek J, Schoser B, Walter MC.

BMC Med Genet. 2013 Sep 16;14:92. doi: 10.1186/1471-2350-14-92.

13.

Hemiplegic migraine with reversible cerebral vasoconstriction caused by ATP1A2 mutations.

Hermann A, Engelandt K, Rautenstrauss B, Reichmann H, Jacobasch E.

J Neurol. 2013 Aug;260(8):2172-4. doi: 10.1007/s00415-013-7010-3. Epub 2013 Jul 3. No abstract available.

PMID:
23821026
14.

Genetic and phenotypic variability of optic neuropathies.

Neuhann T, Rautenstrauss B.

Expert Rev Neurother. 2013 Apr;13(4):357-67. doi: 10.1586/ern.13.19. Review.

PMID:
23545052
15.

Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family.

Safka Brožková D, Nevšímalová S, Mazanec R, Rautenstrauss B, Seeman P.

Neuromuscul Disord. 2012 Aug;22(8):742-6. doi: 10.1016/j.nmd.2012.04.002. Epub 2012 Apr 28.

PMID:
22546699
16.

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.

Horvath R, Holinski-Feder E, Neeve VC, Pyle A, Griffin H, Ashok D, Foley C, Hudson G, Rautenstrauss B, Nürnberg G, Nürnberg P, Kortler J, Neitzel B, Bässmann I, Rahman T, Keavney B, Loughlin J, Hambleton S, Schoser B, Lochmüller H, Santibanez-Koref M, Chinnery PF.

Mov Disord. 2012 May;27(6):789-93. doi: 10.1002/mds.24980. Epub 2012 Apr 16.

PMID:
22508347
17.

MFN2 mutations cause compensatory mitochondrial DNA proliferation.

Sitarz KS, Yu-Wai-Man P, Pyle A, Stewart JD, Rautenstrauss B, Seeman P, Reilly MM, Horvath R, Chinnery PF.

Brain. 2012 Aug;135(Pt 8):e219, 1-3; author reply e220, 1-3. doi: 10.1093/brain/aws049. Epub 2012 Apr 4. No abstract available.

18.

A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease.

Marttila M, Rautenstrauss B, Huehne K, Laitinen V, Majamaa K, Kärppä M.

J Neurol. 2012 Aug;259(8):1585-9. doi: 10.1007/s00415-011-6382-5. Epub 2012 Jan 6.

PMID:
22222859
19.

A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients.

Fledrich R, Schlotter-Weigel B, Schnizer TJ, Wichert SP, Stassart RM, Meyer zu Hörste G, Klink A, Weiss BG, Haag U, Walter MC, Rautenstrauss B, Paulus W, Rossner MJ, Sereda MW.

Brain. 2012 Jan;135(Pt 1):72-87. doi: 10.1093/brain/awr322. Epub 2011 Dec 20.

20.

Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy.

Haberlová J, Mazanec R, Ridzoň P, Baránková L, Nürnberg G, Nürnberg P, Sticht H, Huehne K, Seeman P, Rautenstrauss B.

J Neurogenet. 2011 Dec;25(4):182-8. doi: 10.3109/01677063.2011.627484. Erratum in: J Neurogenet. 2012 Jun;26(2):252.

PMID:
22091729
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