Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.

Rebelo, Adriana P; Abad, Clemer; Dohrn, Maike F; Li, Jian J; Tieu, Ethan K; Medina, Jessica; Yanick, Christopher; Huang, Jingyu; Zotter, Brendan; Young, Juan I; Saporta, Mario; Scherer, Steven S; Walz, Katherina; Zuchner, Stephan.

Brain ; 2024 Mar 27.

Artigo em Inglês | MEDLINE | ID: mdl-38538210

2.

Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.

Dohrn, Maike F; Beijer, Danique; Lone, Museer A; Bayraktar, Elif; Oflazer, Piraye; Orbach, Rotem; Donkervoort, Sandra; Foley, A Reghan; Rose, Aubrey; Lyons, Michael; Louie, Raymond J; Gable, Kenneth; Dunn, Teresa; Chen, Sitong; Danzi, Matt C; Synofzik, Matthis; Bönnemann, Carsten G; Nazli Basak, A; Hornemann, Thorsten; Zuchner, Stephan.

J Neurol Neurosurg Psychiatry ; 95(3): 201-205, 2024 Feb 14.

Artigo em Inglês | MEDLINE | ID: mdl-38041684

3.

Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.

Cortese, Andrea; Currò, Riccardo; Ronco, Riccardo; Blake, Julian; Rossor, Alex M; Bugiardini, Enrico; Laurà, Matilde; Warner, Tom; Yousry, Tarek; Poh, Roy; Polke, James; Rebelo, Adriana; Dohrn, Maike F; Saporta, Mario; Houlden, Henry; Zuchner, Stephan; Reilly, Mary M.

Eur J Neurol ; 31(1): e16063, 2024 01.

Artigo em Inglês | MEDLINE | ID: mdl-37772343

4.

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.

Xu, Isaac R L; Danzi, Matt C; Ruiz, Ariel; Raposo, Jacquelyn; De Jesus, Yeisha Arcia; Reilly, Mary M; Cortese, Andrea; Shy, Michael E; Scherer, Steven S; Herrmann, David N; Fridman, Vera; Baets, Jonathan; Saporta, Mario; Seyedsadjadi, Reza; Stojkovic, Tanya; Claeys, Kristl G; Patel, Pooja; Feely, Shawna; Rebelo, Adriana P; Dohrn, Maike F; Züchner, Stephan.

J Peripher Nerv Syst ; 2024 Apr 05.

Artigo em Inglês | MEDLINE | ID: mdl-38581130

5.

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.

Rebelo, Adriana P; Tomaselli, Pedro J; Medina, Jessica; Wang, Ying; Dohrn, Maike F; Nyvltova, Eva; Danzi, Matt C; Garrett, Mark; Smith, Sean E; Pestronk, Alan; Li, Chengcheng; Ruiz, Ariel; Jacobs, Elizabeth; Feely, Shawna M E; França, Marcondes C; Gomes, Marcus V; Santos, Diogo F; Kumar, Surinder; Lombard, David B; Saporta, Mario; Hekimi, Siegfried; Barrientos, Antoni; Weihl, Conrad; Shy, Michael E; Marques, Wilson; Zuchner, Stephan.

Brain ; 146(10): 4191-4199, 2023 10 03.

Artigo em Inglês | MEDLINE | ID: mdl-37170631

6.

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Lischka, Annette; Eggermann, Katja; Record, Christopher J; Dohrn, Maike F; Lassuthová, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Soukalová, Jana; Laura, Matilde; Rossor, Alexander M; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J; Ungelenk, Martin; Debus, Karlien Y; Feely, Shawna M E; Gläser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramírez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Romero Sánchez, Juan; Suthar, Renu; Udani, Vrajesh; Nalini, Atchayaram; Unnikrishnan, Gopikrishnan; Marques, Wilson; Mercier, Sandra; Procaccio, Vincent; Bris, Céline; Suresh, Beena; Reddy, Vaishnavi; Skorupinska, Mariola; Bonello-Palot, Nathalie; Mochel, Fanny; Dahl, Georg; Sasidharan, Karthika; Devassikutty, Fiji M; Nampoothiri, Sheela; Rodovalho Doriqui, Maria J; Müller-Felber, Wolfgang; Vill, Katharina.

Brain ; 146(12): 4880-4890, 2023 12 01.

Artigo em Inglês | MEDLINE | ID: mdl-37769650

7.

[Neuropathic pain as a symptom in autonomic neuropathies and other rare diseases : Small fiber neuropathy: its recognition, diagnosis, and treatment]. / Neuropathische Schmerzen als Symptom bei autonomen Neuropathien und anderen seltenen Erkrankungen : Kleinfaserneuropathie erkennen, diagnostizieren und behandeln.

Fischer, Fiona; Dohrn, Maike F; Kapfenberger, Romina; Igharo, Denver; Seeber, Diana; de Moya Rubio, Elena; Pitarokoili, Kalliopi; Börsch, Natalie; Mücke, Martin; Rolke, Roman; Schulz, Jörg B; Maier, Andrea.

Schmerz ; 38(1): 33-40, 2024 Feb.

Artigo em Alemão | MEDLINE | ID: mdl-38197939

8.

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.

Rebelo, Adriana P; Ruiz, Ariel; Dohrn, Maike F; Wayand, Melanie; Farooq, Amjad; Danzi, Matt C; Beijer, Danique; Aaron, Brooke; Vandrovcova, Jana; Houlden, Henry; Matalonga, Leslie; Abreu, Lisa; Rouleau, Guy; Estiar, Mehrdad A; Van de Vondel, Liedewei; Gan-Or, Ziv; Baets, Jonathan; Schüle, Rebecca; Zuchner, Stephan.

Genet Med ; 24(12): 2487-2500, 2022 12.

Artigo em Inglês | MEDLINE | ID: mdl-36136088

9.

Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia.

Nikonishyna, Yuliia V; Ortner, Nadine J; Kaserer, Teresa; Hoffmann, Jessica; Biskup, Saskia; Dafotakis, Manuel; Reetz, Kathrin; Schulz, Jörg B; Striessnig, Jörg; Dohrn, Maike F.

Mov Disord ; 37(2): 401-404, 2022 02.

Artigo em Inglês | MEDLINE | ID: mdl-34647648

10.

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.

Beijer, Danique; Dohrn, Maike F; De Winter, Jonathan; Fazal, Sarah; Cortese, Andrea; Stojkovic, Tanya; Fernández-Eulate, Gorka; Remiche, Gauthier; Gentile, Mattia; Van Coster, Rudy; Dufke, Claudia; Synofzik, Matthis; De Jonghe, Peter; Züchner, Stephan; Baets, Jonathan.

Eur J Neurol ; 29(7): 2156-2161, 2022 07.

Artigo em Inglês | MEDLINE | ID: mdl-35253317

11.

Targeting transthyretin - Mechanism-based treatment approaches and future perspectives in hereditary amyloidosis.

Dohrn, Maike F; Ihne, Sandra; Hegenbart, Ute; Medina, Jessica; Züchner, Stephan L; Coelho, Teresa; Hahn, Katrin.

J Neurochem ; 156(6): 802-818, 2021 03.

Artigo em Inglês | MEDLINE | ID: mdl-33155274

12.

Hereditary motor neuropathies.

Dohrn, Maike F; Saporta, Mario.

Curr Opin Neurol ; 33(5): 568-574, 2020 10.

Artigo em Inglês | MEDLINE | ID: mdl-32796276

13.

Semi-automated volumetry of MRI serves as a biomarker in neuromuscular patients.

Müller, Madlaine; Dohrn, Maike F; Romanzetti, Sandro; Gadermayr, Michael; Reetz, Kathrin; Krämer, Nils A; Kuhl, Christiane; Schulz, Jörg B; Gess, Burkhard.

Muscle Nerve ; 61(5): 600-607, 2020 05.

Artigo em Inglês | MEDLINE | ID: mdl-32022288

14.

Role of high-resolution ultrasound in detection and monitoring of peripheral nerve tumor burden in neurofibromatosis in children.

Winter, Natalie; Dohrn, Maike F; Wittlinger, Julia; Loizides, Alexander; Gruber, Hannes; Grimm, Alexander.

Childs Nerv Syst ; 36(10): 2427-2432, 2020 10.

Artigo em Inglês | MEDLINE | ID: mdl-32561982

15.

[Causes, spectrum, and treatment of the diabetic neuropathy]. / Ursachen, Spektrum und Therapie der diabetischen Neuropathie.

Dohrn, Maike F; Winter, Natalie; Dafotakis, Manuel.

Nervenarzt ; 91(8): 714-721, 2020 Aug.

Artigo em Alemão | MEDLINE | ID: mdl-32647958

16.

Does APC/C^CDH1 control the human brain size?: An Editorial Highlight for 'A novel human Cdh1 mutation impairs anaphase-promoting complex/cyclosome (APC/C) activity resulting in microcephaly, psychomotor retardation, and epilepsy' on page 103.

Dohrn, Maike F; Bolaños, Juan P.

J Neurochem ; 151(1): 8-10, 2019 10.

Artigo em Inglês | MEDLINE | ID: mdl-31441503

17.

[Neuropathic pain syndromes and channelopathies]. / Neuropathische Schmerzsyndrome bei Ionenkanalerkrankungen.

Dohrn, Maike F; Lampert, Angelika; Üçeyler, Nurcan; Kurth, Ingo.

Internist (Berl) ; 60(1): 90-97, 2019 Jan.

Artigo em Alemão | MEDLINE | ID: mdl-30564884

18.

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Dohrn, Maike F; Glöckle, Nicola; Mulahasanovic, Lejla; Heller, Corina; Mohr, Julia; Bauer, Christine; Riesch, Erik; Becker, Andrea; Battke, Florian; Hörtnagel, Konstanze; Hornemann, Thorsten; Suriyanarayanan, Saranya; Blankenburg, Markus; Schulz, Jörg B; Claeys, Kristl G; Gess, Burkhard; Katona, Istvan; Ferbert, Andreas; Vittore, Debora; Grimm, Alexander; Wolking, Stefan; Schöls, Ludger; Lerche, Holger; Korenke, G Christoph; Fischer, Dirk; Schrank, Bertold; Kotzaeridou, Urania; Kurlemann, Gerhard; Dräger, Bianca; Schirmacher, Anja; Young, Peter; Schlotter-Weigel, Beate; Biskup, Saskia.

J Neurochem ; 143(5): 507-522, 2017 12.

Artigo em Inglês | MEDLINE | ID: mdl-28902413

19.

Reduced Gray Matter Volume and Cortical Thickness in Patients With Small-Fiber Neuropathy.

Scheliga, Sebastian; Dohrn, Maike F; Habel, Ute; Lampert, Angelika; Rolke, Roman; Lischka, Annette; van den Braak, Noortje; Spehr, Marc; Jo, Han-Gue; Kellermann, Thilo.

J Pain ; 25(6): 104457, 2024 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-38211845

20.

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.

Dohrn, Maike F; Bademci, Guney; Rebelo, Adriana P; Jeanne, Médéric; Borja, Nicholas A; Beijer, Danique; Danzi, Matt C; Bivona, Stephanie A; Gueguen, Paul; Zafeer, Mohammad F; Tekin, Mustafa; Züchner, Stephan.

Ann Clin Transl Neurol ; 11(4): 1075-1079, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-38504481

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