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Items: 1 to 50 of 127

1.

Neuromuscular Disorders in Children.

Müller-Felber W.

Neuropediatrics. 2019 Oct 18. doi: 10.1055/s-0039-1698448. [Epub ahead of print] No abstract available.

PMID:
31627233
2.

One year of newborn screening for SMA - Results of a German pilot project.

Vill K, Kölbel H, Schwartz O, Blaschek A, Olgemöller B, Harms E, Burggraf S, Röschinger W, Durner J, Gläser D, Nennstiel U, Wirth B, Schara U, Jensen B, Becker M, Hohenfellner K, Müller-Felber W.

J Neuromuscul Dis. 2019 Sep 28. doi: 10.3233/JND-190428. [Epub ahead of print]

PMID:
31594245
3.

High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.

Czibere L, Burggraf S, Fleige T, Glück B, Keitel LM, Landt O, Durner J, Röschinger W, Hohenfellner K, Wirth B, Müller-Felber W, Vill K, Becker M.

Eur J Hum Genet. 2019 Jul 30. doi: 10.1038/s41431-019-0476-4. [Epub ahead of print]

PMID:
31363188
4.

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.

Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H.

Orphanet J Rare Dis. 2019 Jul 16;14(1):179. doi: 10.1186/s13023-019-1119-0.

5.

Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.

Dittrich S, Graf E, Trollmann R, Neudorf U, Schara U, Heilmann A, von der Hagen M, Stiller B, Kirschner J, Pozza RD, Müller-Felber W, Weiss K, von Au K, Khalil M, Motz R, Korenke C, Lange M, Wilichowski E, Pattathu J, Ebinger F, Wiechmann N, Schröder R; German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network Investigators list of additional local Investigators and co-workers of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network.

Orphanet J Rare Dis. 2019 May 10;14(1):105. doi: 10.1186/s13023-019-1066-9.

6.

Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study.

Demmelmair H, MacDonald A, Kotzaeridou U, Burgard P, Gonzalez-Lamuno D, Verduci E, Ersoy M, Gokcay G, Alyanak B, Reischl E, Müller-Felber W, Faber FL, Handel U, Paci S, Koletzko B.

Nutrients. 2018 Dec 7;10(12). pii: E1944. doi: 10.3390/nu10121944.

7.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.

Vill K, Müller-Felber W, Gläser D, Kuhn M, Teusch V, Schreiber H, Weis J, Klepper J, Schirmacher A, Blaschek A, Wiessner M, Strom TM, Dräger B, Hofmeister-Kiltz K, Tacke M, Gerstl L, Young P, Horvath R, Senderek J.

Hum Genet. 2018 Dec;137(11-12):911-919. doi: 10.1007/s00439-018-1952-6. Epub 2018 Nov 21.

PMID:
30460542
8.

Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.

Laššuthová P, Vill K, Erdem-Ozdamar S, Schröder JM, Topaloglu H, Horvath R, Müller-Felber W, Bansagi B, Schlotter-Weigel B, Gläser D, Neupauerová J, Sedláčková L, Staněk D, Mazanec R, Weis J, Seeman P, Senderek J.

Clin Genet. 2018 Nov;94(5):467-472. doi: 10.1111/cge.13417. Epub 2018 Aug 14.

PMID:
30028002
9.

Development of practice and consensus-based strategies including a treat-to-target approach for the management of moderate and severe juvenile dermatomyositis in Germany and Austria.

Hinze CH, Oommen PT, Dressler F, Urban A, Weller-Heinemann F, Speth F, Lainka E, Brunner J, Fesq H, Foell D, Müller-Felber W, Neudorf U, Rietschel C, Schwarz T, Schara U, Haas JP.

Pediatr Rheumatol Online J. 2018 Jun 25;16(1):40. doi: 10.1186/s12969-018-0257-6.

10.

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.

Alhaddad B, Schossig A, Haack TB, Kovács-Nagy R, Braunisch MC, Makowski C, Senderek J, Vill K, Müller-Felber W, Strom TM, Krabichler B, Freisinger P, Deshpande C, Polster T, Wolf NI, Desguerre I, Wörmann F, Rötig A, Ahting U, Kopajtich R, Prokisch H, Meitinger T, Feichtinger RG, Mayr JA, Jungbluth H, Hubmann M, Zschocke J, Distelmaier F, Koch J.

Neuropediatrics. 2018 Oct;49(5):330-338. doi: 10.1055/s-0038-1661396. Epub 2018 Jun 25.

PMID:
29940663
11.

Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.

Vill K, Blaschek A, Gläser D, Kuhn M, Haack T, Alhaddad B, Wagner M, Kovacs-Nagy R, Tacke M, Gerstl L, Schroeder AS, Borggraefe I, Mueller C, Schlotter-Weigel B, Schoser B, Walter MC, Müller-Felber W.

J Neuromuscul Dis. 2017;4(4):315-325. doi: 10.3233/JND-170231.

PMID:
29172004
12.

[Spinal muscular atrophy : Time for newborn screening?]

Vill K, Blaschek A, Schara U, Kölbel H, Hohenfellner K, Harms E, Olgemöller B, Walter MC, Müller-Felber W.

Nervenarzt. 2017 Dec;88(12):1358-1366. doi: 10.1007/s00115-017-0447-3. Review. German.

PMID:
29101527
13.

Body pose estimation in depth images for infant motion analysis.

Hesse N, Schroder AS, Muller-Felber W, Bodensteiner C, Arens M, Hofmann UG.

Conf Proc IEEE Eng Med Biol Soc. 2017 Jul;2017:1909-1912. doi: 10.1109/EMBC.2017.8037221.

PMID:
29060265
14.

[Multiple sclerosis in childhood and adolescence : Complex, chronic and differentiated].

Blaschek A, Huppke P, Kümpfel T, Müller-Felber W, Rostasy K.

Nervenarzt. 2017 Dec;88(12):1377-1384. doi: 10.1007/s00115-017-0422-z. Review. German.

PMID:
29038883
15.

Pediatric Guillain-Barré Syndrome: Is a low amplitude of nerve action potentials always a bad omen?

Müller-Felber W.

Eur J Paediatr Neurol. 2017 Nov;21(6):804. doi: 10.1016/j.ejpn.2017.09.008. No abstract available.

PMID:
28985957
16.

TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis.

Blaschek A, V Kries R, Lohse P, Huss K, Vill K, Belohradsky BH, Heinen F, Müller-Felber W, Kümpfel T.

Eur J Paediatr Neurol. 2018 Jan;22(1):72-81. doi: 10.1016/j.ejpn.2017.08.007. Epub 2017 Sep 1.

PMID:
28927886
17.

Acute Flaccid Myelitis in German Children in 2016-the Return of Polio?

Hübner J, Kruse B, Christen HJ, Weidenmann J, Weiner V, Schöne-Bake JC, Eichinger A, Diedrich S, Müller-Felber W.

Dtsch Arztebl Int. 2017 Aug 21;114(33-34):551-557. doi: 10.3238/arztebl.2017.0551.

18.

Jumping Mechanography as a Complementary Testing Tool for Motor Function in Children with Hereditary Motor and Sensory Neuropathy.

Vill K, Ille L, Blaschek A, Rawer R, Landgraf MN, Gerstl L, Schroeder SA, Müller-Felber W.

Neuropediatrics. 2017 Dec;48(6):420-425. doi: 10.1055/s-0037-1603778. Epub 2017 Jun 22. No abstract available.

PMID:
28641335
19.

Clinical Neurophysiology in Neuromuscular Disorders: Old Fashioned or Still Relevant?

Müller-Felber W, Vill K.

Neuropediatrics. 2017 Aug;48(4):221-225. doi: 10.1055/s-0037-1603777. Epub 2017 Jun 19. Review. No abstract available.

PMID:
28628940
20.

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.

Vill K, Müller-Felber W, Alhaddad B, Strom TM, Teusch V, Weigand H, Blaschek A, Meitinger T, Haack TB.

Mov Disord. 2017 May;32(5):797-799. doi: 10.1002/mds.26922. Epub 2017 Feb 2. No abstract available.

PMID:
28150420
21.

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.

Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H.

Am J Hum Genet. 2016 Oct 6;99(4):894-902. doi: 10.1016/j.ajhg.2016.07.018. Epub 2016 Sep 8.

22.

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

Lukacs Z, Nieves Cobos P, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Müller-Felber W, Schoser B.

Neurology. 2016 Jul 19;87(3):295-8. doi: 10.1212/WNL.0000000000002758. Epub 2016 May 11.

23.

Proximal muscular atrophy and weakness: An unusual adverse effect of deferasirox iron chelation therapy.

Vill K, Müller-Felber W, Teusch V, Blaschek A, Gerstl L, Huetker S, Albert MH.

Neuromuscul Disord. 2016 Apr-May;26(4-5):322-5. doi: 10.1016/j.nmd.2016.02.011. Epub 2016 Feb 23.

PMID:
27068298
24.

Six-minute walk test versus two-minute walk test in children with Duchenne muscular dystrophy: Is more time more information?

Vill K, Ille L, Schroeder SA, Blaschek A, Müller-Felber W.

Eur J Paediatr Neurol. 2015 Nov;19(6):640-6. doi: 10.1016/j.ejpn.2015.08.002. Epub 2015 Aug 20.

PMID:
26455815
25.

Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.

Vill K, Kuhn M, Gläser D, Walter MC, Müller-Felber W.

Neuropediatrics. 2015 Aug;46(4):282-6. doi: 10.1055/s-0035-1554100. Epub 2015 Jun 25.

PMID:
26110311
26.

50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.

Walter MC, Rossius M, Zitzelsberger M, Vorgerd M, Müller-Felber W, Ertl-Wagner B, Zhang Y, Brinkmeier H, Senderek J, Schoser B.

Neuromuscul Disord. 2015 Jul;25(7):577-84. doi: 10.1016/j.nmd.2015.04.005. Epub 2015 Apr 16.

PMID:
25953320
27.

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K.

Clin Genet. 2016 Jan;89(1):34-43. doi: 10.1111/cge.12594. Epub 2015 Apr 29.

PMID:
25850958
28.

Muscle ultrasound in classic infantile and adult Pompe disease: a useful screening tool in adults but not in infants.

Vill K, Schessl J, Teusch V, Schroeder S, Blaschek A, Schoser B, Müller-Felber W.

Neuromuscul Disord. 2015 Feb;25(2):120-6. doi: 10.1016/j.nmd.2014.09.016. Epub 2014 Oct 22.

PMID:
25455803
29.

Overlap phenotype between CMT1A and hereditary neuropathy with liability to pressure palsies caused by the novel small in-frame deletion c.407_418del12 in PMP22 gene.

Vill K, Kuhn M, Gläser D, Müller-Felber W.

Neuropediatrics. 2015 Feb;46(1):44-8. doi: 10.1055/s-0034-1389897. Epub 2014 Sep 29.

PMID:
25265422
30.

Long-term follow-up in patients with CCFDN syndrome.

Walter MC, Bernert G, Zimmermann U, Müllner-Eidenböck A, Moser E, Kalaydjieva L, Lochmüller H, Müller-Felber W.

Neurology. 2014 Oct 7;83(15):1337-44. doi: 10.1212/WNL.0000000000000874. Epub 2014 Sep 3.

PMID:
25186864
31.

Are evoked potentials in patients with adult-onset pompe disease indicative of clinically relevant central nervous system involvement?

Wirsching A, Müller-Felber W, Schoser B.

J Clin Neurophysiol. 2014 Aug;31(4):362-6. doi: 10.1097/WNP.0000000000000084.

PMID:
25083849
32.

Early infantile sensory-motor neuropathy with late onset respiratory distress.

Blaschek A, Gläser D, Kuhn M, Schroeder AS, Wimmer C, Heimkes B, Schön C, Müller-Felber W.

Neuromuscul Disord. 2014 Mar;24(3):269-71. doi: 10.1016/j.nmd.2013.11.013. Epub 2013 Dec 1.

PMID:
24342282
33.

Somatropin treatment of spinal muscular atrophy: a placebo-controlled, double-blind crossover pilot study.

Kirschner J, Schorling D, Hauschke D, Rensing-Zimmermann C, Wein U, Grieben U, Schottmann G, Schara U, Konrad K, Müller-Felber W, Thiele S, Wilichowski E, Hobbiebrunken E, Stettner GM, Korinthenberg R.

Neuromuscul Disord. 2014 Feb;24(2):134-42. doi: 10.1016/j.nmd.2013.10.011. Epub 2013 Nov 13.

PMID:
24300782
34.

Pediatric idiopathic inflammatory myopathies: an update on diagnostic and treatment strategies.

Muller-Felber W, Wanschitz J, Vill K, Baumann M.

Neuropediatrics. 2013 Dec;44(6):314-23. doi: 10.1055/s-0033-1358600. Epub 2013 Nov 7. Review.

PMID:
24203857
35.

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

Gallenmüller C, Müller-Felber W, Dusl M, Stucka R, Guergueltcheva V, Blaschek A, von der Hagen M, Huebner A, Müller JS, Lochmüller H, Abicht A.

Neuromuscul Disord. 2014 Jan;24(1):31-5. doi: 10.1016/j.nmd.2013.08.002. Epub 2013 Aug 7.

36.

[Quality of life after brachial plexus lesions in adults].

Holdenried M, Schenck TL, Akpaloo J, Müller-Felber W, Holzbach T, Giunta RE.

Handchir Mikrochir Plast Chir. 2013 Aug;45(4):229-34. doi: 10.1055/s-0033-1353161. Epub 2013 Aug 22. German.

PMID:
23970402
37.

Early white matter changes in childhood multiple sclerosis: a diffusion tensor imaging study.

Blaschek A, Keeser D, Müller S, Koerte IK, Sebastian Schröder A, Müller-Felber W, Heinen F, Ertl-Wagner B.

AJNR Am J Neuroradiol. 2013 Oct;34(10):2015-20. doi: 10.3174/ajnr.A3581. Epub 2013 May 16.

38.

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy.

Regnery C, Kornblum C, Hanisch F, Vielhaber S, Strigl-Pill N, Grunert B, Müller-Felber W, Glocker FX, Spranger M, Deschauer M, Mengel E, Schoser B.

J Inherit Metab Dis. 2012 Sep;35(5):837-45. Epub 2012 Jan 31.

PMID:
22290025
39.

The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.

Roberts M, Kishnani PS, van der Ploeg AT, Müller-Felber W, Merlini L, Prasad S, Case LE.

Mol Genet Metab. 2011 Dec;104(4):574-82. doi: 10.1016/j.ymgme.2011.08.011. Epub 2011 Aug 16.

PMID:
21930409
40.

[Splints in birth-related brachial plexus injuries].

Schenck TL, Bayer T, Enders A, Marton MA, Machens HG, Müller-Felber W, Giunta RE.

Handchir Mikrochir Plast Chir. 2011 Apr;43(2):105-11. doi: 10.1055/s-0031-1271660. Epub 2011 Apr 20. German.

PMID:
21509702
41.

Pompe disease: design, methodology, and early findings from the Pompe Registry.

Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, van der Ploeg A.

Mol Genet Metab. 2011 May;103(1):1-11. doi: 10.1016/j.ymgme.2011.02.004. Epub 2011 Feb 11. Erratum in: Mol Genet Metab. 2011 Nov;104(3):424.

PMID:
21439876
42.

Children with tethered cord syndrome of different etiology benefit from microsurgery-a single institution experience.

Stavrinou P, Kunz M, Lehner M, Heger A, Müller-Felber W, Tonn JC, Peraud A.

Childs Nerv Syst. 2011 May;27(5):803-10. doi: 10.1007/s00381-010-1374-9. Epub 2011 Jan 6.

PMID:
21210127
43.

Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial.

Kirschner J, Schessl J, Schara U, Reitter B, Stettner GM, Hobbiebrunken E, Wilichowski E, Bernert G, Weiss S, Stehling F, Wiegand G, Müller-Felber W, Thiele S, Grieben U, von der Hagen M, Lütschg J, Schmoor C, Ihorst G, Korinthenberg R.

Lancet Neurol. 2010 Nov;9(11):1053-9. doi: 10.1016/S1474-4422(10)70196-4. Epub 2010 Aug 26.

PMID:
20801085
44.

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.

Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Müller-Felber W, Venkateswaran R, Ogier H, Desguerre I, Altuzarra C, Thompson E, Smitka M, Huebner A, Husson M, Horvath R, Chinnery P, Vaz FM, Munnich A, Elpeleg O, Delahodde A, de Keyzer Y, de Lonlay P.

Hum Mutat. 2010 Jul;31(7):E1564-73. doi: 10.1002/humu.21282.

PMID:
20583302
45.

Consequences of mutations within the C terminus of the FHL1 gene.

Schoser B, Goebel HH, Janisch I, Quasthoff S, Rother J, Bergmann M, Müller-Felber W, Windpassinger C.

Neurology. 2009 Aug 18;73(7):543-51. doi: 10.1212/WNL.0b013e3181b2a4b3.

PMID:
19687455
46.

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B.

J Neurol. 2010 Jan;257(1):91-7. doi: 10.1007/s00415-009-5275-3. Epub 2009 Aug 1.

PMID:
19649685
47.

Does dietary DHA improve neural function in children? Observations in phenylketonuria.

Koletzko B, Beblo S, Demmelmair H, Müller-Felber W, Hanebutt FL.

Prostaglandins Leukot Essent Fatty Acids. 2009 Aug-Sep;81(2-3):159-64. doi: 10.1016/j.plefa.2009.06.006. Epub 2009 Jul 16.

PMID:
19615874
48.

Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

Müller-Höcker J, Horvath R, Schäfer S, Hessel H, Müller-Felber W, Kühr J, Copeland WC, Seibel P.

J Cell Mol Med. 2011 Feb;15(2):445-56. doi: 10.1111/j.1582-4934.2009.00819.x.

49.

Muscle biopsy substantiates long-term MRI alterations one year after a single dose of botulinum toxin injected into the lateral gastrocnemius muscle of healthy volunteers.

Schroeder AS, Ertl-Wagner B, Britsch S, Schröder JM, Nikolin S, Weis J, Müller-Felber W, Koerte I, Stehr M, Berweck S, Borggraefe I, Heinen F.

Mov Disord. 2009 Jul 30;24(10):1494-503. doi: 10.1002/mds.22661.

PMID:
19489066
50.

Myofascial trigger points in children with tension-type headache: a new diagnostic and therapeutic option.

von Stülpnagel C, Reilich P, Straube A, Schäfer J, Blaschek A, Lee SH, Müller-Felber W, Henschel V, Mansmann U, Heinen F.

J Child Neurol. 2009 Apr;24(4):406-9. doi: 10.1177/0883073808324540.

PMID:
19339283

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