Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Marion Döbler-Neumann"'
Autor:
Alisa Mo, Afshin Saffari, Melanie Kellner, Marion Döbler‐Neumann, Catherine Jordan, Siddharth Srivastava, Bo Zhang, Mustafa Sahin, John K. Fink, Linsley Smith, Jennifer E. Posey, Katharine E. Alter, Camilo Toro, Craig Blackstone, Ariane G. Soldatos, Michelle Christie, Rebecca Schüle, Darius Ebrahimi‐Fakhari
Publikováno v:
Movement disorders 37(12), 2440-2446 (2022). doi:10.1002/mds.29225
Mov Disord
Mov Disord
Familial hereditary spastic paraplegia (HSP)-SPAST (SPG4) typically presents with a pure HSP phenotype.The aim of this study was to delineate the genotypic and phenotypic spectrum of children with de novo HSP-SPAST.This study used a systematic cross-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb27dd83920485e0a4b88794a230e52c
https://pub.dzne.de/record/165247
https://pub.dzne.de/record/165247
Autor:
Andrea Bevot, Diana Chiang, Laurence Colleaux, Christian A. Hübner, Hans Hartmann, Zhao-Qi Wang, Tobias B. Haack, Ralf A. Husain, J. Christopher Hennings, Kevin Rostasy, Michael C. Kruer, Hossein Darvish, Olaf Riess, Andy Cheuk Him Ng, Marion Döbler-Neumann, Tim M. Strom, Lucia Laugwitz, Johannes A. Mayr, Thomas Klopstock, Xenia Kobeleva, René G. Feichtinger, Saghar Ghasemi Firouzabadi, Rebecca Buchert, Amelie J. Müller, Matias Wagner, Antje K. Huebner, Shrikant Mane, Marcus Deschauer, Ingeborg Krägeloh-Mann, Abdelkrim Saadi, Ulrich Brandl, Penelope E. Bonnen, Christian Marx, Isabell Cordts, Thomas Klockgether, Abbas Tafakhori, Thomas Meitinger, Florentine Radelfahr, Arnaud Besse, Mona Grimmel, Marc Sturm, Saskia B. Wortmann, Somayeh Bakhtiari, Francois V. Bolduc, Stefanie Beck-Woedl, Thomas Nägele
Publikováno v:
The American journal of human genetics 107(2), 364-373 (2020). doi:10.1016/j.ajhg.2020.06.015
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.364-373. ⟨10.1016/j.ajhg.2020.06.015⟩
Am J Hum Genet
Am. J. Hum. Genet. 107, 364-373 (2020)
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.364-373. ⟨10.1016/j.ajhg.2020.06.015⟩
Am J Hum Genet
Am. J. Hum. Genet. 107, 364-373 (2020)
International audience; We report bi-allelic pathogenic HPDL variants as a cause of a progressive, pediatric-onset spastic movement disorder with variable clinical presentation. The single-exon gene HPDL encodes a protein of unknown function with seq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03a6b1699a506f1613e8922c058bf730
Autor:
Ingeborg Krägeloh-Mann, Karin Haas-Lude, Samuel Groeschel, Marion Döbler-Neumann, Eliane Roulet-Perez, Thomas Nägele
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 23(4)
Pediatric abusive head trauma (AHT) or non accidental head trauma (NAHT) is a major cause of death from trauma in children under 2 years of age. Main etiological factor for non accidental head trauma is shaking a baby, causing brain injury by rotatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73c02bf82abfe5d32b51c0232f5016fe
https://pubmed.ncbi.nlm.nih.gov/31324275
https://pubmed.ncbi.nlm.nih.gov/31324275
Autor:
Mona Grimmel, Samuel Groeschel, Marc Sturm, Marion Döbler-Neumann, Georg Gohla, Stefanie Beck-Wödl, Tobias B. Haack, Angelika Riess, Rebecca Buchert, Lucia Laugwitz, Ingeborg Krägeloh-Mann
Publikováno v:
European Journal of Medical Genetics. 63:103938
Pontocerebellar hypoplasia (PCH) comprises a clinically and genetically heterogeneous group of disorders characterized by hypoplasia and degeneration of the cerebellum and ventral pons. To date at least 18 different clinical subtypes of PCH associate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ca0b6a13df8832eb42150925dcbe64b
https://doi.org/10.1016/j.ejmg.2020.103938
https://doi.org/10.1016/j.ejmg.2020.103938
The congenital disorders of glycosylation (CDG) are autosomal recessive disorders of N-glycans processing. Several different subtypes have been identified in recent years. Cerebellar atrophy is a characteristic finding in subtype Ia. We report clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d15b6d247dfc13bbdec0b2d63666c1e6
https://ora.ox.ac.uk/objects/uuid:fb220d2b-c168-4efd-9666-9115e5872f74
https://ora.ox.ac.uk/objects/uuid:fb220d2b-c168-4efd-9666-9115e5872f74
Autor:
Montserrat Ruiz, Stephan Züchner, Anne S. Soehn, Tim W. Rattay, Aurora Pujol, David Monk, Konstanze Hörtnagel, Olaf Riess, Marion Döbler-Neumann, Peter Bauer, Stefanie Beck-Wödl, Karin Schäferhoff, Agatha Schlüter, Ludger Schöls, Rebecca Schüle
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Neurology 87(2), 186-191 (2016). doi:10.1212/WNL.0000000000002843
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Neurology 87(2), 186-191 (2016). doi:10.1212/WNL.0000000000002843
Objective: Identifying an intriguing mechanism for unmasking recessive hereditary spastic paraplegias. Method: Herein, we describe 4 novel homozygous FA2H mutations in 4 nonconsanguineous families detected by whole-exome sequencing or a targeted gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8cb1816590241a1d3d1d62e2ce7633a
http://hdl.handle.net/2445/126828
http://hdl.handle.net/2445/126828
Autor:
Peter Bauer, Christopher Schroeder, Andreas Tzschach, Marion Döbler-Neumann, S. Wieser, Angelika Riess, M. Bonin, Olaf Riess, Ute Moog
Publikováno v:
Clinical Genetics. 86:292-294
SHORT syndrome (OMIM 269880) is a rare autosomal-dominant disorder characterized by short stature, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies (Rieger anomaly, posterior embryotoxon, glaucoma), teething delay, parti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8c09a84e07ae08f4f46cda55b28fe919
https://doi.org/10.1111/cge.12263
https://doi.org/10.1111/cge.12263