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1

Clinical phenotypes ofMAGEL2mutations and deletions

Buiting, Karin, Di Donato, Nataliya, Beygo, Jasmin, Bens, Susanne, von der Hagen, Maja, Hackmann, Karl, Horsthemke, Bernhard

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 330 KB

english, 2014

2

Diagnostic Approach to Primary Microcephaly

von der Hagen, Maja

Journal:

Neuropediatrics

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

3

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, Sven, Graf, Erika, Trollmann, Regina, Neudorf, Ulrich, Schara, Ulrike, Heilmann, Antje, von der Hagen, Maja, Stiller, Brigitte, Kirschner, Janbernd, Pozza, Robert Dalla, Müller-Felber, Wolfg

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 688 KB

2019

4

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

5

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H

Kristian Borg, Rolf Stucka, Matthew Locke, Eva Melin, Gabrielle Åhlberg, Ursula Klutzny, Maja von der Hagen, Angela Huebner, Hanns Lochmüller, Klaus Wrogemann, Lars-Eric Thornell, Derek J. Blake, Bene

Journal:

Year:

2009

Language:

english

File:

PDF, 442 KB

english, 2009

6

Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in theFKRPgene presenting as acute virus-associated myositis in infancy

Maja von der Hagen, Angela M. Kaindl, Kathrin Koehler, Petra Mitzscherling, Hans-Jürgen Häusler, Gisela Stoltenburg-Didinger, Angela Huebner

Journal:

European Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 174 KB

english, 2006

7

Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

Angela Abicht, Marina Dusl, Constanze Gallenmüller, Velina Guergueltcheva, Ulrike Schara, Adele Della Marina, Eva Wibbeler, Sybille Almaras, Violeta Mihaylova, Maja von der Hagen, Angela Huebner, Amin

Journal:

Year:

2012

Language:

english

File:

PDF, 533 KB

english, 2012

8

The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy

Ulrike Schara, Wolfram Kress, Carsten G. Bönnemann, Nico Breitbach-Faller, Christoph G. Korenke, Gudrun Schreiber, Mechthild Stoetter, Ana Ferreiro, Maja von der Hagen

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 431 KB

english, 2008

9

Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure

Daniel Birchall, Maja von der Hagen, David Bates, Kate M.D. Bushby, Patrick F. Chinnery

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 212 KB

english, 2005

10

The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice

Maja von der Hagen, Steven H. Laval, Lynsey M. Cree, Faye Haldane, Matthew Pocock, Ilka Wappler, Heiko Peters, Herbert A. Reitsamer, Harald Hoger, Maria Wiedner, Felicitas Oberndorfer, Louise V.B. And

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 386 KB

english, 2005

11

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

Vilma-Lotta Lehtokari, Katarina Pelin, Agnes Herczegfalvi, Veronika Karcagi, Jean Pouget, Jerôme Franques, Jean François Pellissier, Dominique Figarella-Branger, Maja von der Hagen, Angela Huebner, Be

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 1.15 MB

english, 2011

12

Growth and psychomotor development of patients with Duchenne muscular dystrophy

Sarrazin, Elisabeth, Hagen, Maja von der, Schara, Ulrike, von Au, Katja, Kaindl, Angela M.

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 1.17 MB

english, 2014

13

Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature

von der Hagen, Maja, Pivarcsi, Mark, Liebe, Juliane, von Bernuth, Horst, Didonato, Nataliya, Hennermann, Julia B, Bührer, Christoph, Wieczorek, Dagmar, Kaindl, Angela M

Journal:

Developmental Medicine & Child Neurology

Year:

2014

Language:

english

File:

PDF, 172 KB

english, 2014

14

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

Gallenmüller, Constanze, Müller-Felber, Wolfgang, Dusl, Marina, Stucka, Rolf, Guergueltcheva, Velina, Blaschek, Astrid, von der Hagen, Maja, Huebner, Angela, Müller, Juliane S., Lochmüller, Hanns, Abi

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 698 KB

english, 2014

15

Two novel nebulin variants in an adult patient with congenital nemaline myopathy

Güttsches, Anne K., Dekomien, Gabriele, Claeys, Kristl G., von der Hagen, Maja, Huebner, Angela, Kley, Rudolf A., Kirschner, Janbernd, Vorgerd, Matthias

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 646 KB

english, 2015

16

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture

Beste, Christian, Ocklenburg, Sebastian, von der Hagen, Maja, Di Donato, Nataliya

Journal:

Brain Structure and Function (Anatomy and Embryology 1891-2006)

Year:

2016

Language:

english

File:

PDF, 1.08 MB

english, 2016

17

Deep brain stimulation in the globus pallidus compensates response inhibition deficits: evidence from pantothenate kinase-associated neurodegeneration

Mückschel, Moritz, Smitka, Martin, Hermann, Andreas, von der Hagen, Maja, Beste, Christian

Journal:

Brain Structure and Function (Anatomy and Embryology 1891-2006)

Year:

2016

Language:

english

File:

PDF, 877 KB

english, 2016

18

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

Hackmann, Karl, Matko, Sarah, Gerlach, Eva-Maria, von der Hagen, Maja, Klink, Barbara, Schrock, Evelin, Rump, Andreas, Di Donato, Nataliya

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 469 KB

english, 2013

19

A five year-old child with clear cell petro-clival meningioma: case report with clinical and histopathological long-term follow-up

Juratli, Tareq A., Geiger, Kathrin D., Weigel, Patrick, von der Hagen, Maja, Daubner, Dirk, Pinzer, Thomas, Hahn, Gabriele, Schackert, Gabriele, Kirsch, Matthias

Journal:

Child's Nervous System

Year:

2015

Language:

english

File:

PDF, 1.13 MB

english, 2015

20

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation

Sell, Katharina, Storch, Katja, Hahn, Gabriele, Lee-Kirsch, Min Ae, Ramantani, Georgia, Jackson, Sandra, Neilson, Derek, von der Hagen, Maja, Hehr, Ute, Smitka, Martin

Journal:

Brain and Development

Year:

2016

Language:

english

File:

PDF, 525 KB

english, 2016

21

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure

Dehmel, Maria, Brenner, Sebastian, Suttorp, Meinolf, Hahn, Gabriele, Schützle, Heike, Dinger, Jürgen, Di Donato, Nataliya, Mackenroth, Luisa, von der Hagen, Maja

Journal:

Neuropediatrics

Year:

2016

Language:

english

File:

PDF, 135 KB

english, 2016

22

Phenotype of five patients with dopa-responsive dystonia and mutations in GCH1

Kaindl, Angela, Steinberger, Daniela, Heubner, Georg, Müller, Ulrich, Blau, Nenad, Neubert, Kerstin, Kunath, Bernhard, von der Hagen, Maja

Journal:

Journal of Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 108 KB

english, 2015

23

Neuropädiatrische Differenzialdiagnostik der Mikrozephalie im Kindesalter

von der Hagen, Maja, Hennermann, Julia B., von Bernuth, Horst, John, Rainer, Spors, Birgit, Kaindl, Angela M.

Journal:

medizinische genetik

Year:

2016

Language:

german

File:

PDF, 1.92 MB

german, 2016

24

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects

Petersen, Jens A., Kuntzer, Thierry, Fischer, Dirk, von der Hagen, Maja, Huebner, Angela, Kana, Veronika, Lobrinus, Johannes A., Kress, Wolfram, Rushing, Elisabeth J., Sinnreich, Michael, Jung, Hans H

Journal:

Year:

2015

Language:

english

File:

PDF, 599 KB

english, 2015

25

Response inhibition in Attention deficit disorder and neurofibromatosis type 1 – clinically similar, neurophysiologically different

Bluschke, Annet, von der Hagen, Maja, Papenhagen, Katharina, Roessner, Veit, Beste, Christian

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 832 KB

english, 2017

26

Conflict processing in juvenile patients with neurofibromatosis type 1 (NF1) and healthy controls – Two pathways to success

Bluschke, Annet, von der Hagen, Maja, Papenhagen, Katharina, Roessner, Veit, Beste, Christian

Journal:

NeuroImage: Clinical

Year:

2017

Language:

english

File:

PDF, 916 KB

english, 2017

27

Response to: ‘JAK inhibition in STING-associated interferonopathy’ by Crow et al

Tüngler, Victoria, König, Nadja, Günther, Claudia, Engel, Kerstin, Fiehn, Christoph, Smitka, Martin, von der Hagen, Maja, Berner, Reinhard, Lee-Kirsch, Min Ae

Journal:

Annals of the Rheumatic Diseases

Year:

2016

Language:

english

File:

PDF, 608 KB

english, 2016

28

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene

Schmelzer, Lisa, Smitka, Martin, Wolf, Christine, Lucas, Nadja, Tüngler, Victoria, Hahn, Gabriele, Tzschach, Andreas, Di Donato, Nataliya, Lee-Kirsch, Min Ae, von der Hagen, Maja

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 598 KB

english, 2017

29

Acquired olfactory dysfunction in children and adolescents – a systematic review of the literature

Schriever, Valentin A, Gellrich, Janine, von der Hagen, Maja, Hummel, Thomas

Journal:

Chemical Senses

Year:

2018

Language:

english

File:

PDF, 953 KB

english, 2018

30

Executive Function Deficits in Seriously Ill Children—Emerging Challenges and Possibilities for Clinical Care

Bluschke, Annet, von der Hagen, Maja, Novotna, Barbara, Roessner, Veit, Beste, Christian

Journal:

Frontiers in Pediatrics

Year:

2018

Language:

english

File:

PDF, 559 KB

english, 2018

31

Safety and Efficacy of Recanalization Therapy in Pediatric Stroke: A Systematic Review and Meta-analysis

Pacheco, Juliana T., Siepmann, Timo, Barlinn, Jessica, Winzer, Simon, Penzlin, Ana Isabel, Puetz, Volker, von der Hagen, Maja, Barlinn, Kristian

Journal:

European Journal of Paediatric Neurology

Year:

2018

Language:

english

File:

PDF, 771 KB

english, 2018

32

Diagnostic value of partial exome sequencing in developmental disorders

Gieldon, Laura, Mackenroth, Luisa, Kahlert, Anne-Karin, Lemke, Johannes R., Porrmann, Joseph, Schallner, Jens, von der Hagen, Maja, Markus, Susanne, Weidensee, Sabine, Novotna, Barbara, Soerensen, Cha

Journal:

Year:

2018

Language:

english

File:

PDF, 11.82 MB

english, 2018

33

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome

Alter, Svenja, Hotz, Alrun, Jahn, Arne, Di Donato, Nataliya, Schröck, Evelin, Smitka, Martin, von der Hagen, Maja, Schallner, Jens, Menschikowski, Mario, Gillitzer, Claus, Laass, Martin W., Fischer, J

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.80 MB

english, 2018

34

The prevalence of headache in German pupils of different ages and school types

Nieswand, Vera, Richter, Matthias, Berner, Reinhard, von der Hagen, Maja, Klimova, Anna, Roeder, Ingo, Koch, Thea, Sabatowski, Rainer, Gossrau, Gudrun

Journal:

Year:

2019

File:

PDF, 226 KB

2019

35

The prevalence of headache in German pupils of different ages and school types

Nieswand, Vera, Richter, Matthias, Berner, Reinhard, von der Hagen, Maja, Klimova, Anna, Roeder, Ingo, Koch, Thea, Sabatowski, Rainer, Gossrau, Gudrun

Journal:

Year:

2019

Language:

english

File:

PDF, 226 KB

english, 2019

36

Influence of chronic diseases on the olfactory function in children

Gellrich, Janine, Dabow, Marie-Luise, Vogelberg, Christian, Reschke, Felix, Näke, Andrea, von der Hagen, Maja, Schriever, Valentin A.

Journal:

European Journal of Pediatrics

Year:

2019

Language:

english

File:

PDF, 304 KB

english, 2019

37

Treatment with Nusinersen – Challenges Regarding the Indication for Children with SMA Type 1

Pechmann, Astrid, Baumann, Matthias, Bernert, Günther, Flotats-Bastardas, Marina, Gruber-Sedlmayr, Ursula, von der Hagen, Maja, Hasselmann, Oswald, Hobbiebrunken, Elke, Horber, Veronka, Johannsen, Jes

Journal:

Journal of Neuromuscular Diseases

Year:

2019

Language:

english

File:

PDF, 67 KB

english, 2019

38

Clinical Perspective on Primary Angiitis of the Central Nervous System in Childhood (cPACNS)

Smitka, Martin, Bruck, Normi, Engellandt, Kay, Hahn, Gabriele, Knoefler, Ralf, von der Hagen, Maja

Journal:

Frontiers in Pediatrics

Year:

2020

File:

PDF, 721 KB

2020

39

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome

Walsh, Sonja, GÃ¶sswein, Sophie Scarlett, Rump, Andreas, Hagen, Maja von der, Hackmann, Karl, SchrÃ¶ck, Evelin, Di Donato, Nataliya, Kahlert, Anne-Karin

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 751 KB

2020

40

The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

Villar-Quiles, Rocio N, von der Hagen, Maja, MÃ©tay, Corinne, Gonzalez, Victoria, Donkervoort, Sandra, Bertini, Enrico, Castiglioni, Claudia, Chaigne, Denys, Colomer, Jaume, Cuadrado, Maria Luz, Visse

Journal:

Year:

2020

File:

PDF, 8.29 MB

2020

41

Correction: Diagnostic value of partial exome sequencing in developmental disorders

Gieldon, Laura, Mackenroth, Luisa, Kahlert, Anne-Karin, Lemke, Johannes R., Porrmann, Joseph, Schallner, Jens, von der Hagen, Maja, Markus, Susanne, Weidensee, Sabine, Novotna, Barbara, Soerensen, Cha

Journal:

Year:

2020

File:

PDF, 166 KB

2020

42

Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy â A patientsâ perspective

Janisch, Maria, Boehme, Kristin, Thiele, Simone, Bock, Annette, Kirschner, Janbernd, Schara, Ulrike, Walter, Maggie C., Nolte-Buchholtz, Silke, von der Hagen, Maja

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 3.22 MB

2020