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Items: 1 to 50 of 54

1.

Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy.

Preuße C, von Moers A, Kölbel H, Pehl D, Goebel HH, Schara U, Stenzel W.

Neuromuscul Disord. 2019 Jul;29(7):487-496. doi: 10.1016/j.nmd.2019.05.003. Epub 2019 May 10.

PMID:
31326192
2.

A comparison study of anxiety in children undergoing brain MRI vs adults undergoing brain MRI vs children undergoing an electroencephalogram.

Jaite C, Kappel V, Napp A, Sommer M, Diederichs G, Weschke B, Spors B, von Moers A, Lehmkuhl U, Bachmann CJ.

PLoS One. 2019 Mar 7;14(3):e0211552. doi: 10.1371/journal.pone.0211552. eCollection 2019.

3.

[Transition from neuropediatrics to neurology in neuromuscular diseases].

Schara U, Fink GR, von Moers A.

Nervenarzt. 2018 Oct;89(10):1123-1130. doi: 10.1007/s00115-018-0585-2. Review. German.

PMID:
30120487
4.

The Curse of Apneic Spells.

Radke J, Dreesmann M, Radke M, von Moers A, Abicht A, Stenzel W, Goebel HH.

Semin Pediatr Neurol. 2018 Jul;26:56-58. doi: 10.1016/j.spen.2017.03.006. Epub 2017 Apr 13.

PMID:
29961520
5.

HaNDL Syndrome with Fever in a 12-Year-Old Boy - A Case Report.

Berthold O, Theophil M, von Moers A.

Headache. 2018 Apr;58(4):597-598. doi: 10.1111/head.13278. Epub 2018 Feb 5. No abstract available.

PMID:
29399803
6.

Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis.

Preuße C, Allenbach Y, Hoffmann O, Goebel HH, Pehl D, Radke J, Doeser A, Schneider U, Alten RH, Kallinich T, Benveniste O, von Moers A, Schoser B, Schara U, Stenzel W.

Acta Neuropathol Commun. 2016 Apr 27;4(1):45. doi: 10.1186/s40478-016-0308-5.

7.

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.

Schottmann G, Seelow D, Seifert F, Morales-Gonzalez S, Gill E, von Au K, von Moers A, Stenzel W, Schuelke M.

Neurol Genet. 2015 Oct 22;1(4):e32. doi: 10.1212/NXG.0000000000000032. eCollection 2015 Dec.

8.

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

Micalizzi A, Poretti A, Romani M, Ginevrino M, Mazza T, Aiello C, Zanni G, Baumgartner B, Borgatti R, Brockmann K, Camacho A, Cantalupo G, Haeusler M, Hikel C, Klein A, Mandrile G, Mercuri E, Rating D, Romaniello R, Santorelli FM, Schimmel M, Spaccini L, Teber S, von Moers A, Wente S, Ziegler A, Zonta A, Bertini E, Boltshauser E, Valente EM.

Eur J Hum Genet. 2016 Aug;24(9):1262-7. doi: 10.1038/ejhg.2016.19. Epub 2016 Mar 2.

9.

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

Mackenroth L, Fischer-Zirnsak B, Egerer J, Hecht J, Kallinich T, Stenzel W, Spors B, von Moers A, Mundlos S, Kornak U, Gerhold K, Horn D.

Am J Med Genet A. 2016 Apr;170A(4):1080-5. doi: 10.1002/ajmg.a.37547. Epub 2016 Jan 22.

PMID:
26799614
10.
11.

Models for transition clinics.

Carrizosa J, An I, Appleton R, Camfield P, Von Moers A.

Epilepsia. 2014 Aug;55 Suppl 3:46-51. doi: 10.1111/epi.12716. Review.

12.

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.

von Renesse A, Petkova MV, Lützkendorf S, Heinemeyer J, Gill E, Hübner C, von Moers A, Stenzel W, Schuelke M.

J Med Genet. 2014 Apr;51(4):275-82. doi: 10.1136/jmedgenet-2013-102236. Epub 2014 Feb 20.

PMID:
24556084
13.

[Magnetic resonance imaging (MRI) in children and adolescents – study design of a feasibility study concerning examination related emotions].

Jaite C, Bachmann C, Dewey M, Weschke B, Spors B, von Moers A, Napp A, Lehmkuhl U, Kappel V.

Z Kinder Jugendpsychiatr Psychother. 2013 Nov;41(6):447-51. doi: 10.1024/1422-4917/a000260. German.

PMID:
24240500
14.

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

Poretti A, Häusler M, von Moers A, Baumgartner B, Zerres K, Klein A, Aiello C, Moro F, Zanni G, Santorelli FM, Huisman TA, Weis J, Valente EM, Bertini E, Boltshauser E.

Cerebellum. 2014 Feb;13(1):79-88. doi: 10.1007/s12311-013-0521-8.

PMID:
24013853
15.

Juvenile autophagic vacuolar myopathy - a new entity or variant?

Stenzel W, Nishino I, von Moers A, Kadry MA, Glaeser D, Heppner FL, Goebel HH.

Neuropathol Appl Neurobiol. 2013 Jun;39(4):449-53. doi: 10.1111/nan.12018. No abstract available.

PMID:
23324055
16.

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.

17.

New mutations in the ATM gene and clinical data of 25 AT patients.

Demuth I, Dutrannoy V, Marques W Jr, Neitzel H, Schindler D, Dimova PS, Chrzanowska KH, Bojinova V, Gregorek H, Graul-Neumann LM, von Moers A, Schulze I, Nicke M, Bora E, Cankaya T, Oláh É, Kiss C, Bessenyei B, Szakszon K, Gruber-Sedlmayr U, Kroisel PM, Sodia S, Goecke TO, Dörk T, Digweed M, Sperling K, de Sá J, Lourenco CM, Varon R.

Neurogenetics. 2011 Nov;12(4):273-82. doi: 10.1007/s10048-011-0299-0. Epub 2011 Oct 2.

PMID:
21965147
18.

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.

Kurian MA, Li Y, Zhen J, Meyer E, Hai N, Christen HJ, Hoffmann GF, Jardine P, von Moers A, Mordekar SR, O'Callaghan F, Wassmer E, Wraige E, Dietrich C, Lewis T, Hyland K, Heales S Jr, Sanger T, Gissen P, Assmann BE, Reith ME, Maher ER.

Lancet Neurol. 2011 Jan;10(1):54-62. doi: 10.1016/S1474-4422(10)70269-6. Epub 2010 Nov 25.

19.

Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome).

Brinckmann A, Weiss C, Wilbert F, von Moers A, Zwirner A, Stoltenburg-Didinger G, Wilichowski E, Schuelke M.

PLoS One. 2010 Oct 20;5(10):e13513. doi: 10.1371/journal.pone.0013513.

20.

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium, Dobyns WB, Baas F, Poll-The BT.

Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15.

PMID:
20952379
21.

A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.

Koehler U, Holinski-Feder E, Ertl-Wagner B, Kunz J, von Moers A, von Voss H, Schell-Apacik C.

Eur J Pediatr. 2010 Apr;169(4):463-8. doi: 10.1007/s00431-009-1057-2. Epub 2009 Sep 8.

PMID:
19763616
22.

Respiratory syncytial virus infection in children admitted to hospital but ventilated mechanically for other reasons.

von Renesse A, Schildgen O, Klinkenberg D, Müller A, von Moers A, Simon A; DSM RSV Study Group.

J Med Virol. 2009 Jan;81(1):160-6. doi: 10.1002/jmv.21367.

PMID:
19031467
23.

Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis.

von der Hagen M, Schallner J, Kaindl AM, Koehler K, Mitzscherling P, Abicht A, Grieben U, Korinthenberg R, Kress W, von Moers A, Müller JS, Schara U, Vorgerd M, Walter MC, Müller-Reible C, Hübner C, Lochmüller H, Huebner A.

Neuromuscul Disord. 2006 Jan;16(1):4-13. Epub 2005 Dec 27.

PMID:
16378727
24.

Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8.

Biebermann H, Ambrugger P, Tarnow P, von Moers A, Schweizer U, Grueters A.

Eur J Endocrinol. 2005 Sep;153(3):359-66.

PMID:
16131597
25.

Atypical manifestation of childhood primary cerebral lymphoma restricted to the leptomeninges.

Uhlenberg B, Reich S, Varnholt V, van Landeghem FK, Scheer I, Berdel D, von Stackelberg A, von Moers A.

Eur J Pediatr. 2005 Oct;164(10):653-4. Epub 2005 Jul 26. No abstract available.

PMID:
16044275
26.

Delayed or late-onset type II glycogenosis with globular inclusions.

Sharma MC, Schultze C, von Moers A, Stoltenburg-Didinger G, Shin YS, Podskarbi T, Isenhardt K, Tews DS, Goebel HH.

Acta Neuropathol. 2005 Aug;110(2):151-7. Epub 2005 Jun 29.

PMID:
15986226
27.

Increased mRNA expression of tissue inhibitors of metalloproteinase-1 and -2 in Duchenne muscular dystrophy.

von Moers A, Zwirner A, Reinhold A, Brückmann O, van Landeghem F, Stoltenburg-Didinger G, Schuppan D, Herbst H, Schuelke M.

Acta Neuropathol. 2005 Mar;109(3):285-93. Epub 2004 Dec 23.

PMID:
15616792
28.
29.

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.

Friesema EC, Grueters A, Biebermann H, Krude H, von Moers A, Reeser M, Barrett TG, Mancilla EE, Svensson J, Kester MH, Kuiper GG, Balkassmi S, Uitterlinden AG, Koehrle J, Rodien P, Halestrap AP, Visser TJ.

Lancet. 2004 Oct 16-22;364(9443):1435-7.

PMID:
15488219
30.
31.

Spontaneous scalp arteriovenous fistula in a child with hartnup disease.

Kim DM, Benndorf G, Von Moers A, Campi A, Lehmann TN.

J Endovasc Ther. 2004 Jun;11(3):348-50.

PMID:
15174904
32.

Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy.

Sifringer M, Uhlenberg B, Lammel S, Hanke R, Neumann B, von Moers A, Koch I, Speer A.

Hum Genet. 2004 Jan;114(2):149-56. Epub 2003 Nov 5.

PMID:
14600829
33.

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.

Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L.

Nat Genet. 2003 Oct;35(2):185-9. Epub 2003 Sep 21.

PMID:
14517542
34.

Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC).

Blattner R, Von Moers A, Leegwater PA, Hanefeld FA, Van Der Knaap MS, Köhler W.

Neuropediatrics. 2003 Aug;34(4):215-8. Review.

PMID:
12973664
35.

Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.

Neumann LM, von Moers A, Kunze J, Blankenstein O, Marquardt T.

Eur J Pediatr. 2003 Oct;162(10):710-3. Epub 2003 Aug 2.

PMID:
12905014
36.

MR imaging features in Marinesco-Sjögren syndrome: severe cerebellar atrophy is not an obligatory finding.

Reinhold A, Scheer I, Lehmann R, Neumann LM, Michael T, Varon R, Von Moers A.

AJNR Am J Neuroradiol. 2003 May;24(5):825-8. Review.

37.

Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation.

Gussoni E, Bennett RR, Muskiewicz KR, Meyerrose T, Nolta JA, Gilgoff I, Stein J, Chan YM, Lidov HG, Bönnemann CG, Von Moers A, Morris GE, Den Dunnen JT, Chamberlain JS, Kunkel LM, Weinberg K.

J Clin Invest. 2002 Sep;110(6):807-14.

38.

EEG features of glut-1 deficiency syndrome.

von Moers A, Brockmann K, Wang D, Korenke CG, Huppke P, De Vivo DC, Hanefeld F.

Epilepsia. 2002 Aug;43(8):941-5.

39.

Large cerebral vessel occlusive disease in Lyme neuroborreliosis.

Klingebiel R, Benndorf G, Schmitt M, von Moers A, Lehmann R.

Neuropediatrics. 2002 Feb;33(1):37-40.

PMID:
11930275
40.

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

Krude H, Schütz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tönnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Grüters A.

J Clin Invest. 2002 Feb;109(4):475-80.

41.

Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.

Brockmann K, Wang D, Korenke CG, von Moers A, Ho YY, Pascual JM, Kuang K, Yang H, Ma L, Kranz-Eble P, Fischbarg J, Hanefeld F, De Vivo DC.

Ann Neurol. 2001 Oct;50(4):476-85.

PMID:
11603379
42.

Elevated p21 mRNA level in skeletal muscle of DMD patients and mdx mice indicates either an exhausted satellite cell pool or a higher p21 expression in dystrophin-deficient cells per se.

Endesfelder S, Krahn A, Kreuzer KA, Lass U, Schmidt CA, Jahrmarkt C, von Moers A, Speer A.

J Mol Med (Berl). 2000;78(10):569-74.

PMID:
11199330
43.

Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy.

Schuelke M, Finckh B, Sistermans EA, Ausems MG, Hübner C, von Moers A.

Neurology. 2000 Nov 28;55(10):1584-6.

PMID:
11094124
44.

Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy.

Kerst B, Mennerich D, Schuelke M, Stoltenburg-Didinger G, von Moers A, Gossrau R, van Landeghem FK, Speer A, Braun T, Hübner C.

Neuromuscul Disord. 2000 Dec;10(8):572-7.

PMID:
11053684
45.

Camptocormia in an adolescent.

Pfeiffer E, von Moers A.

J Am Acad Child Adolesc Psychiatry. 2000 Aug;39(8):944-5. No abstract available.

PMID:
10939223
46.

Dystrophinopathy in a boy with Chediak-Higashi syndrome.

von Moers A, van Landeghem FK, Cohn RD, Baumgarten E, Bürger J, Stoltenburg-Didinger G.

Neuromuscul Disord. 1998 Oct;8(7):489-94.

PMID:
9829279
47.

Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation.

Schuelke M, Bakker M, Stoltenburg G, Sperner J, von Moers A.

Ann Neurol. 1998 Oct;44(4):700-4.

PMID:
9778273
48.

X-chromosomal (p21) muscular dystrophy and left ventricular diastolic and systolic function.

Brockmeier K, Schmitz L, von Moers A, Koch H, Vogel M, Bein G.

Pediatr Cardiol. 1998 Mar-Apr;19(2):139-44.

PMID:
9565505
49.
50.

Comparison of three immunoassays for diagnosing sensitization to latex in children with spina bifida.

Niggemann B, Michael T, von Moers A, Seidel U, Wahl R, Jacobsen L, Scheffer D, Wahn U.

Pediatr Allergy Immunol. 1996 Nov;7(4):164-6.

PMID:
9151335

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