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1

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, Luisa, Fischer-Zirnsak, Björn, Egerer, Johannes, Hecht, Jochen, Kallinich, Tilmann, Stenzel, Werner, Spors, Birgit, von Moers, Arpad, Mundlos, Stefan, Kornak, Uwe, Gerhold, Kerstin, Horn,

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.26 MB

english, 2016

2

Kinderschutz im Rettungsdienst: Erkennen, Bewerten, Handeln; Child protection in emergency medical services. Recognize, assess, act;

Berthold, O., Clemens, V., Ahne, S., Witt, A., von Aster, M., von Moers, A., Plener, P., Kölch, M., Fegert, J. M.

Journal:

Notfall + Rettungsmedizin

Year:

2018

Language:

german

File:

PDF, 1.00 MB

german, 2018

3

Neugeborener Junge mit Ullrich-Turner-Syndrom?

M. Huesker, B. Belitz, J. Rakob, A. von Moers

Journal:

Monatsschrift Kinderheilkunde

Year:

2010

Language:

german

File:

PDF, 311 KB

german, 2010

4

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

Birgit Kerst, Detlev Mennerich, Markus Schuelke, Gisela Stoltenburg-Didinger, Arpad von Moers, Reinhart Gossrau, Frank K.H van Landeghem, Astrid Speer, Thomas Braun, Christoph Hübner

Journal:

Neuromuscular Disorders

Year:

2000

Language:

english

File:

PDF, 391 KB

english, 2000

5

Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus

Knierim, Ellen, Seelow, Dominik, Gill, Esther, von Moers, Arpad, Schuelke, Markus

Journal:

Year:

2015

Language:

english

File:

PDF, 2.30 MB

english, 2015

6

Spontaneous Scalp Arteriovenous Fistula in a Child With Hartnup Disease

Kim, Doris Maria, Benndorf, Goetz, von Moers, Arpad, Campi, Adriana, Lehmann, Thomas-Nicolas

Journal:

Journal of Endovascular Therapy

Year:

2004

Language:

english

File:

PDF, 71 KB

english, 2004

7

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

Berthold, Oliver, Theophil, Manuela, von Moers, Arpad

Journal:

Headache: The Journal of Head and Face Pain

Year:

2018

Language:

english

File:

PDF, 91 KB

english, 2018

8

Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec â AVXS-101; Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovecâAVXS-101;

Ziegler, Andreas, Wilichowski, Ekkehard, Schara, Ulrike, Hahn, Andreas, MÃ¼ller-Felber, Wolfgang, Johannsen, Jessika, von der Hagen, Maja, von Moers, Arpad, Stoltenburg, Corinna, Saffari, Afshin, Walt

Journal:

Year:

2020

File:

PDF, 611 KB

2020

9

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the sonic hedgehog gene and the HLXB9 gene at 7q36.3

Denise Horn, Holger Tönnies, Heidemarie Neitzel, Dagmar Wahl, Georg Klaus Hinkel, Arpad von Moers, Oliver Bartsch

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 238 KB

english, 2004

10

Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy

Knut Brockmann, Dong Wang, Christoph G. Korenke, Arpad Von Moers, Yuan-Yuan Ho, Juan M. Pascual, Kunyan Kuang, Hong Yang, Li Ma, Pamela Kranz-Eble, Jorge Fischbarg, Folker Hanefeld, Darryl C. De Vivo

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 1.18 MB

english, 2001

11

Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNASer(UCN) mutation

Markus Schuelke, Melan Bakker, Gisela Stoltenburg, Jürgen Sperner, Arpad von Moers

Journal:

Annals of Neurology

Year:

1998

Language:

english

File:

PDF, 954 KB

english, 1998

12

Neue einfache Synthese von Chlorarsiniden-Komplexen

Joachim Von Seyerl, cand. chem. Ute Moering, cand. chem. Adalbert Wagner, Prof. Dr. Gottfried Huttner, Dr. Albin Frank

Journal:

Angewandte Chemie

Year:

1978

Language:

german

File:

PDF, 120 KB

german, 1978

13

Facile New Synthesis of Chloroarsinidene Complexes

Dipl.-Chem. Joachim von Seyerl, Ute Moering, Adalbert Wagner, Dr. Albin Frank, Prof. Dr. Gottfried Huttner

Journal:

Angewandte Chemie International Edition

Year:

1978

Language:

english

File:

PDF, 234 KB

english, 1978

14

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

Anja von Renesse, Oliver Schildgen, Dennis Klinkenberg, Andreas Müller, Arpad von Moers, Arne Simon

Journal:

Journal of Medical Virology

Year:

2009

Language:

english

File:

PDF, 146 KB

english, 2009

15

EEG Features of Glut-1 Deficiency Syndrome

Arpad Von Moers, Knut Brockmann, Dong Wang, Christoph G. Korenke, Peter Huppke, Darryl C. De Vivo, Folker Hanefeld

Journal:

Year:

2002

Language:

english

File:

PDF, 263 KB

english, 2002

16

Self-assembled GaN nanostructures by dry etching and their optical properties

Anna Haab, Martin Mikulics, Andreas Winden, Sally Voigt, Martina von der Ahe, Jürgen Moers, Konrad Wirtz, Toma Stoica, Detlev Grützmacher, Hilde Hardtdegen

Journal:

physica status solidi (a)

Year:

2012

Language:

english

File:

PDF, 474 KB

english, 2012

17

Cranial ultrasound findings in aspartoacylase deficiency (Canavan disease)

C. Bührer, C. Bassir, A. von Moers, J. Sperner, T. Michael, D. Scheffner, H. J. Kaufmann

Journal:

Pediatric Radiology

Year:

1993

Language:

english

File:

PDF, 745 KB

english, 1993

18

Antisense oligonucleotides and short interfering RNAs silencing the cyclin-dependent kinase inhibitor p21 improve proliferation of Duchenne muscular dystrophy patients’ primary skeletal myoblasts

Stefanie Endesfelder, Alexander Kliche, Hanns Lochmüller, Arpad von Moers, Astrid Speer

Journal:

Journal of Molecular Medicine

Year:

2005

Language:

english

File:

PDF, 286 KB

english, 2005

19

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

Stefanie Endesfelder, Antje Krahn, Karl-Anton Kreuzer, Ulrich Lass, Christian Andreas Schmidt, Claus Jahrmarkt, Apard von Moers, Astrid Speer

Journal:

Journal of Molecular Medicine

Year:

2000

Language:

english

File:

PDF, 55 KB

english, 2000

20

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

Arpad von Moers, Angelika Zwirner, Anke Reinhold, Olaf Brückmann, Frank van Landeghem, Gisela Stoltenburg-Didinger, Detlef Schuppan, Herrman Herbst, Markus Schuelke

Journal:

Acta Neuropathologica

Year:

2005

Language:

english

File:

PDF, 1.60 MB

english, 2005

21

Delayed or late-onset type II glycogenosis with globular inclusions

Mehar C. Sharma, Christoph Schultze, Arpad von Moers, Gisela Stoltenburg-Didinger, Yoon S. Shin, Teodor Podskarbi, Klaus Isenhardt, Dominique S. Tews, Hans H. Goebel

Journal:

Acta Neuropathologica

Year:

2005

Language:

english

File:

PDF, 435 KB

english, 2005

22

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

Luitgard M. Neumann, Arpad von Moers, Jürgen Kunze, Oliver Blankenstein, Thorsten Marquardt

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 245 KB

english, 2003

23

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

Udo Koehler, Elke Holinski-Feder, Birgit Ertl-Wagner, Juergen Kunz, Arpad von Moers, Hubertus von Voss, Chayim Schell-Apacik

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 270 KB

english, 2010

24

Radiative lifetimes of the B1Π state of LiH and LiD

F. von Moers, S. Heitz, H. Büsener, H.-J. Sagner, A. Hese

Journal:

Chemical Physics

Year:

1987

Language:

english

File:

PDF, 396 KB

english, 1987

25

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

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

Journal:

Pediatric Allergy and Immunology

Year:

1996

Language:

english

File:

PDF, 204 KB

english, 1996

26

Cytisin

van de Moer, von Partheil, P. C. Plugge

Journal:

Analytical and Bioanalytical Chemistry

Year:

1895

Language:

german

File:

PDF, 105 KB

german, 1895

27

X-Chromosomal (p21) Muscular Dystrophy and Left Ventricular Diastolic and Systolic Function

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

Journal:

Pediatric Cardiology

Year:

1998

Language:

english

File:

PDF, 375 KB

english, 1998

28

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

Manju A Kurian, Yan Li, Juan Zhen, Esther Meyer, Nebula Hai, Hans-Jürgen Christen, Georg F Hoffmann, Philip Jardine, Arpad von Moers, Santosh R Mordekar, Finbar O'Callaghan, Evangeline Wassmer, Elizab

Journal:

The Lancet Neurology

Year:

2011

Language:

english

File:

PDF, 475 KB

english, 2011

29

Serum levels of carboxyterminal propeptide of type I procollagen, aminoterminal propeptide of type III procollagen and laminin P1 in Duchenne muscular dystrophy

A von Moers, T Danne, P Möller, D Scheffner

Journal:

Acta Paediatrica

Year:

1997

Language:

english

File:

PDF, 327 KB

english, 1997

30

Strukturuntersuchungen an β-RuCl3, RuBr3 und RuJ3

H.G. von Schnering, K. Brodersen, F. Moers, H.K. Breitbach, G. Thiele

Journal:

Journal of the Less Common Metals

Year:

1966

File:

PDF, 201 KB

1966

31

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

M. von der Hagen, J. Schallner, A.M. Kaindl, K. Koehler, P. Mitzscherling, A. Abicht, U. Grieben, R. Korinthenberg, W. Kress, A. von Moers, J.S. Müller, U. Schara, M. Vorgerd, M.C. Walter, C. Müller-R

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 126 KB

english, 2006

32

T.P.3.08 Clinical trial of epigallocatechin-3-gallate in Duchenne muscular dystrophy

A. von Moers, F. Paul, M. Schülke, S. Ohlraum, Y. Nakae, O.M. Dorchies, U.T. Ruegg

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

33

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

Edith CH Friesema, Annette Grueters, Heike Biebermann, Heiko Krude, Arpad von Moers, Maarten Reeser, Timothy G Barrett, Edna E Mancilla, Johan Svensson, Monique HA Kester, George GJM Kuiper, Sahila Ba

Journal:

Year:

2004

Language:

english

File:

PDF, 309 KB

english, 2004

34

Duplication of dystrophin exon 18 in a DMD patient with mental retardation

Thomas Bettecken, Sibylle Jakubiczka, Ronald D. Cohn, Arpad von Moers, Astrid Speer, Angela Weber, Thomas Voit, Christoph Hübner

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 259 KB

english, 1997

35

Dystrophinopathy in a boy with Chidiak-Higashi syndrome

Arpad von Moers, Frank Van Landeghem, Annemarie Kiehntopf, Eckart Baumgarten, Ronald D. Cohn, Joachim Bvrger, Gisela Stoltenburg-Didinger

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 255 KB

english, 1997

36

Dystrophinopathy in a boy with Chediak–Higashi syndrome

Arpad von Moers, Frank K.H van Landeghem, Ronald D Cohn, Eckardt Baumgarten, Joachim Bürger, Gisela Stoltenburg-Didinger

Journal:

Neuromuscular Disorders

Year:

1998

Language:

english

File:

PDF, 142 KB

english, 1998

37

Powerful single-mode radiation by injection locking of a CW dye laser amplifier

Bohm, D., von Moers, F., Hese, A.

Journal:

IEEE Journal of Quantum Electronics

Year:

1989

Language:

english

File:

PDF, 372 KB

english, 1989

38

Excited-state dipole moments of SO2

von Moers, F., Schmalzigaug, K., Schmoldt, A., Heitz, S., Hese, A.

Journal:

The Journal of Chemical Physics

Year:

1990

Language:

english

File:

PDF, 662 KB

english, 1990

39

CAMPTOCORMIA IN AN ADOLESCENT

Pfeiffer, Ernst, von Moers, Arpad

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

2000

Language:

english

File:

PDF, 195 KB

english, 2000

40

P.20.3 Targeting fibrosis and inflammation in Duchenne Muscular Dystrophy

Preusse, C., Goebel, H.H., Moers, A. von, Heppner, F.L., Stenzel, W.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

41

G.P.168

Preuße, C., Schara, U., Goebel, H.H., Zerbe, N., Hufnagl, P., Heppner, F.L., von Moers, A., Stenzel, W.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 47 KB

english, 2014

42

Models for transition clinics

Carrizosa, Jaime, An, Isabelle, Appleton, Richard, Camfield, Peter, Von Moers, Arpad

Journal:

Year:

2014

Language:

english

File:

PDF, 119 KB

english, 2014

43

Juvenile autophagic vacuolar myopathy - a new entity or variant?

Stenzel, W., Nishino, I., von Moers, A., Kadry, M. A., Glaeser, D., Heppner, F. L., Goebel, H.-H.

Journal:

Neuropathology and Applied Neurobiology

Year:

2013

Language:

english

File:

PDF, 695 KB

english, 2013

44

Excited-state dipole moments of SO2. II

Heitz, S., Schmalzigaug, K., von Moers, F., Hese, A.

Journal:

The Journal of Chemical Physics

Year:

1992

Language:

english

File:

PDF, 620 KB

english, 1992

45

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

Wan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P, Hong, Ji Eun, Leong, Derek W, Senderek, Jan, Salman, Michael S, Chitayat, David, Seeman, Pavel, von Moers, Arp

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 1.45 MB

english, 2012

46

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

von Renesse, A., Petkova, M. V., Lutzkendorf, S., Heinemeyer, J., Gill, E., Hubner, C., von Moers, A., Stenzel, W., Schuelke, M.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 3.43 MB

english, 2014

47

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.

Journal:

European Journal of Endocrinology

Year:

2005

Language:

english

File:

PDF, 342 KB

english, 2005

48

Ataxia with vitamin E deficiency: Biochemical effects of malcompliance with vitamin E therapy

Schuelke, M., Finckh, B., Sistermans, E. A., Ausems, M. G. E. M., Hubner, C., von Moers, A.

Journal:

Year:

2000

Language:

english

File:

PDF, 647 KB

english, 2000

49

„Es werden immer mehr…”

Moers-Messmer, Dirk von, Mayer, Manfred, Schauenburg, Henning

Journal:

PiD - Psychotherapie im Dialog

Year:

2008

Language:

german

File:

PDF, 187 KB

german, 2008

50

Large Cerebral Vessel Occlusive Disease in Lyme Neuroborreliosis

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

Journal:

Neuropediatrics

Year:

2002

Language:

english

File:

PDF, 368 KB

english, 2002