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Items: 1 to 50 of 165

1.

Pregnancy and Delivery in Women With Congenital Myopathies.

Rudnik-Schöneborn S, Wallgren-Pettersson C.

Semin Pediatr Neurol. 2019 Apr;29:23-29. doi: 10.1016/j.spen.2019.01.006. Epub 2019 Jan 16.

PMID:
31060722
2.

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network, Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J.

EMBO J. 2018 Dec 3;37(23). pii: e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12.

PMID:
30420557
3.

Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.

Schatz UA, Weiss S, Wenninger S, Schoser B, Muss WH, Bittner RE, Schmidt WM, Schossig AS, Rudnik-Schöneborn S, Baumann M.

Neurology. 2018 Oct 30;91(18):e1690-e1694. doi: 10.1212/WNL.0000000000006428. Epub 2018 Oct 5.

PMID:
30291184
4.

Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/050).

Toth B, Würfel W, Bohlmann M, Zschocke J, Rudnik-Schöneborn S, Nawroth F, Schleußner E, Rogenhofer N, Wischmann T, von Wolff M, Hancke K, von Otte S, Kuon R, Feil K, Tempfer C.

Geburtshilfe Frauenheilkd. 2018 Apr;78(4):364-381. doi: 10.1055/a-0586-4568. Epub 2018 Apr 27.

5.

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Braunisch MC, Gallwitz H, Abicht A, Diebold I, Holinski-Feder E, Van Maldergem L, Lammens M, Kovács-Nagy R, Alhaddad B, Strom TM, Meitinger T, Senderek J, Rudnik-Schöneborn S, Haack TB.

Clin Genet. 2018 Feb;93(2):255-265. doi: 10.1111/cge.13084. Epub 2017 Nov 8.

PMID:
28653766
6.

Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.

van Dijk T, Rudnik-Schöneborn S, Senderek J, Hajmousa G, Mei H, Dusl M, Aronica E, Barth P, Baas F.

Brain. 2017 Aug 1;140(8):e46. doi: 10.1093/brain/awx147. No abstract available.

PMID:
28637197
7.

Hereditary Neuropathies: Update 2017.

Rudnik-Schöneborn S, Auer-Grumbach M, Senderek J.

Neuropediatrics. 2017 Aug;48(4):282-293. doi: 10.1055/s-0037-1603518. Epub 2017 Jun 8. Review. No abstract available.

PMID:
28597455
8.

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.

Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J.

Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008.

9.

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC.

Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212.

10.

Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis.

Rudnik-Schöneborn S, Witsch-Baumgartner M, Zerres K.

Gynecol Obstet Invest. 2016;81(5):472-6. doi: 10.1159/000446944. Epub 2016 Jun 15.

PMID:
27300293
11.

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.

Rudnik-Schöneborn S, Deden F, Eggermann K, Eggermann T, Wieczorek D, Sellhaus B, Yamoah A, Goswami A, Claeys KG, Weis J, Zerres K.

Muscle Nerve. 2016 Sep;54(3):496-500. doi: 10.1002/mus.25114. Epub 2016 Jul 9.

PMID:
26998597
12.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M.

Am J Hum Genet. 2016 Mar 3;98(3):473-489. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25.

13.

Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1.

Rudnik-Schöneborn S, Barisić N, Eggermann K, Ortiz Brüchle N, Grđan P, Zerres K.

Neuromuscul Disord. 2016 Feb;26(2):132-5. doi: 10.1016/j.nmd.2015.12.003. Epub 2015 Dec 22.

PMID:
26794302
14.

Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.

Knopp C, Rudnik-Schöneborn S, Eggermann T, Bergmann C, Begemann M, Schoner K, Zerres K, Ortiz Brüchle N.

Mol Cell Probes. 2015 Oct;29(5):299-307. doi: 10.1016/j.mcp.2015.05.008. Epub 2015 May 21.

PMID:
26003401
15.

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.

Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K.

Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.90. Epub 2015 May 20. No abstract available.

16.

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
17.

Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion.

Hirt N, Eggermann K, Hyrenbach S, Lambeck J, Busche A, Fischer J, Rudnik-Schöneborn S, Gaspar H.

Neurology. 2015 Apr 14;84(15):1605-6. doi: 10.1212/WNL.0000000000001470. Epub 2015 Mar 20. No abstract available.

PMID:
25795643
18.

[Myotonic dystrophies: clinical presentation, pathogenesis, diagnostics and therapy].

Finsterer J, Rudnik-Schöneborn S.

Fortschr Neurol Psychiatr. 2015 Jan;83(1):9-17. doi: 10.1055/s-0034-1385734. Epub 2015 Jan 20. Review. German.

PMID:
25602187
19.

Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.

Knopp C, Rudnik-Schöneborn S, Zerres K, Gencik M, Spengler S, Eggermann T.

Am J Med Genet A. 2015 Jan;167A(1):151-5. doi: 10.1002/ajmg.a.36825. Epub 2014 Oct 22.

PMID:
25339544
20.

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

Gess B, Auer-Grumbach M, Schirmacher A, Strom T, Zitzelsberger M, Rudnik-Schöneborn S, Röhr D, Halfter H, Young P, Senderek J.

Neurology. 2014 Nov 4;83(19):1726-32. doi: 10.1212/WNL.0000000000000966. Epub 2014 Oct 1.

PMID:
25274842
21.

Pontocerebellar hypoplasia.

Rudnik-Schöneborn S, Barth PG, Zerres K.

Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):173-83. doi: 10.1002/ajmg.c.31403. Epub 2014 Jun 12. Review.

PMID:
24924738
22.

Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.

Elbracht M, Senderek J, Schara U, Nolte K, Klopstock T, Roos A, Reimann J, Zerres K, Weis J, Rudnik-Schöneborn S.

Clin Neuropathol. 2014 Sep-Oct;33(5):335-43. doi: 10.5414/NP300742.

PMID:
24887401
23.

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.

Méneret A, Depienne C, Riant F, Trouillard O, Bouteiller D, Cincotta M, Bitoun P, Wickert J, Lagroua I, Westenberger A, Borgheresi A, Doummar D, Romano M, Rossi S, Defebvre L, De Meirleir L, Espay AJ, Fiori S, Klebe S, Quélin C, Rudnik-Schöneborn S, Plessis G, Dale RC, Sklower Brooks S, Dziezyc K, Pollak P, Golmard JL, Vidailhet M, Brice A, Roze E.

Neurology. 2014 Jun 3;82(22):1999-2002. doi: 10.1212/WNL.0000000000000477. Epub 2014 May 7.

24.

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.

Spiegler S, Najm J, Liu J, Gkalympoudis S, Schröder W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A, Freudenberg L, Grasshoff U, Hellenbroich Y, Henn W, Hoffjan S, Hüning I, Korenke GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Schöneborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U.

Mol Genet Genomic Med. 2014 Mar;2(2):176-85. doi: 10.1002/mgg3.60. Epub 2014 Jan 14.

25.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J.

Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30.

26.

Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?

Shababi M, Lorson CL, Rudnik-Schöneborn SS.

J Anat. 2014 Jan;224(1):15-28. doi: 10.1111/joa.12083. Epub 2013 Jul 22. Review.

27.

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

Neveling K, Martinez-Carrera LA, Hölker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schöneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B.

Am J Hum Genet. 2013 Jun 6;92(6):946-54. doi: 10.1016/j.ajhg.2013.04.011. Epub 2013 May 9.

28.

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L.

Orphanet J Rare Dis. 2013 Mar 15;8:41. doi: 10.1186/1750-1172-8-41.

29.

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K.

Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2.

30.

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.

Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC.

Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254.

31.

Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy.

Nolte KW, Trepels-Kottek S, Honnef D, Weis J, Bien CG, van Baalen A, Ritter K, Czermin B, Rudnik-Schöneborn S, Wagner N, Häusler M.

Neuropathology. 2013 Feb;33(1):59-67. doi: 10.1111/j.1440-1789.2012.01317.x. Epub 2012 Apr 27.

PMID:
22537151
32.

Clinical utility gene card for: proximal spinal muscular atrophy.

Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K.

Eur J Hum Genet. 2012 Jun;20(6). doi: 10.1038/ejhg.2012.62. Epub 2012 Apr 18. No abstract available.

33.

Stress and coping in parents of children and adolescents with spinal muscular atrophy.

von Gontard A, Rudnik-Schöneborn S, Zerres K.

Klin Padiatr. 2012 Jul;224(4):247-51. Epub 2012 Apr 13.

PMID:
22504774
34.

Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients.

Awater C, Zerres K, Rudnik-Schöneborn S.

Eur J Obstet Gynecol Reprod Biol. 2012 Jun;162(2):153-9. doi: 10.1016/j.ejogrb.2012.02.020. Epub 2012 Mar 28.

PMID:
22459654
35.

A phenotype map for 14q32.3 terminal deletions.

Engels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam RC, Rudnik-Schöneborn S, Kreiss-Nachtsheim M, Reutter H.

Am J Med Genet A. 2012 Apr;158A(4):695-706. doi: 10.1002/ajmg.a.35256. Epub 2012 Feb 24.

PMID:
22367666
36.

Life with too much polyprenol: polyprenol reductase deficiency.

Gründahl JE, Guan Z, Rust S, Reunert J, Müller B, Du Chesne I, Zerres K, Rudnik-Schöneborn S, Ortiz-Brüchle N, Häusler MG, Siedlecka J, Swiezewska E, Raetz CR, Marquardt T.

Mol Genet Metab. 2012 Apr;105(4):642-51. doi: 10.1016/j.ymgme.2011.12.017. Epub 2011 Dec 29.

37.

Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.

Rudnik-Schöneborn S, Zerres K, Graul-Neumann L, Wiegand S, Mellerowicz H, Hehr U.

Mol Syndromol. 2011 Sep;1(6):301-306. Epub 2011 Sep 14.

38.

SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy.

Rudnik-Schöneborn S, Arning L, Epplen JT, Zerres K.

Neuromuscul Disord. 2012 Mar;22(3):258-62. doi: 10.1016/j.nmd.2011.09.006. Epub 2011 Nov 15.

PMID:
22088787
39.

Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: another case of Yunis-Varón syndrome or report of a new entity.

Reutter H, Bagci S, Müller A, Gembruch U, Geipel A, Berg C, Eggermann T, Spengler S, Bartmann P, Rudnik-Schöneborn S.

Eur J Med Genet. 2012 Jan;55(1):27-31. doi: 10.1016/j.ejmg.2011.09.002. Epub 2011 Oct 11.

PMID:
22044576
40.

Recurrence risks of hypertensive diseases in pregnancy after HELLP syndrome.

Leeners B, Neumaier-Wagner PM, Kuse S, Mütze S, Rudnik-Schöneborn S, Zerres K, Rath W.

J Perinat Med. 2011 Nov;39(6):673-8. doi: 10.1515/JPM.2011.081. Epub 2011 Aug 2.

PMID:
21809897
41.

179th ENMC international workshop: pregnancy in women with neuromuscular disorders 5-7 November 2010, Naarden, The Netherlands.

Norwood F, Rudnik-Schöneborn S.

Neuromuscul Disord. 2012 Feb;22(2):183-90. doi: 10.1016/j.nmd.2011.05.009. Epub 2011 Jul 13. No abstract available.

PMID:
21689937
42.

Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family.

Zirn B, Korenke C, Wagner M, Rudnik-Schöneborn S, Müller U.

Mov Disord. 2011 Feb 1;26(2):361-2. doi: 10.1002/mds.23437. Epub 2010 Nov 10. No abstract available.

PMID:
21412843
43.

Digital necroses and vascular thrombosis in severe spinal muscular atrophy.

Rudnik-Schöneborn S, Vogelgesang S, Armbrust S, Graul-Neumann L, Fusch C, Zerres K.

Muscle Nerve. 2010 Jul;42(1):144-7. doi: 10.1002/mus.21654.

PMID:
20583119
44.

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.

Rudnik-Schöneborn S, Takahashi T, Busse S, Schmidt T, Senderek J, Eggermann T, Zerres K.

Am J Med Genet A. 2010 Jun;152A(6):1540-4. doi: 10.1002/ajmg.a.33387.

PMID:
20503332
45.

Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients.

Rudnik-Schöneborn S, Schaupp M, Lindner A, Kress W, Schulze-Bahr E, Zumhagen S, Elbracht M, Zerres K.

Eur J Neurol. 2011 Jan;18(1):191-4. doi: 10.1111/j.1468-1331.2010.03077.x.

PMID:
20491895
46.

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.

Reilich P, Schramm N, Schoser B, Schneiderat P, Strigl-Pill N, Müller-Höcker J, Kress W, Ferbert A, Rudnik-Schöneborn S, Noth J, Lochmüller H, Weis J, Walter MC.

J Neurol. 2010 Jul;257(7):1108-18. doi: 10.1007/s00415-010-5471-1. Epub 2010 Feb 10.

PMID:
20146070
47.

Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene.

Rudnik-Schöneborn S, Hehr U, von Kalle T, Bornemann A, Winkler J, Zerres K.

Neuropediatrics. 2009 Jun;40(3):129-33. doi: 10.1055/s-0029-1234084. Epub 2009 Dec 17.

PMID:
20020398
48.

Pure distal trisomy 2q: a rare chromosomal abnormality with recognizable phenotype.

Elbracht M, Roos A, Schönherr N, Busse S, Damen R, Zerres K, Rudnik-Schöneborn S, Schüler HM.

Am J Med Genet A. 2009 Nov;149A(11):2547-50. doi: 10.1002/ajmg.a.33086.

PMID:
19876899
49.

Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling.

Rudnik-Schöneborn S, Berg C, Zerres K, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Heller R.

Clin Genet. 2009 Aug;76(2):168-78. doi: 10.1111/j.1399-0004.2009.01200.x.

PMID:
19780763
50.

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.

Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE.

Am J Hum Genet. 2009 Apr;84(4):511-8. doi: 10.1016/j.ajhg.2009.03.006. Epub 2009 Apr 2.

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