Does APC/C(CDH1) control the human brain size?: An Editorial Highlight for https://doi.org/10.1111/jnc.14828

por Dohrn, Maike F., Bolaños, Juan P.
Publicado 2019

Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome

por Dohrn, Maike F., Beijer, Danique, Mulahasanovic, Lejla
Publicado 2022

Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis

por Dohrn, Maike F., Medina, Jessica, Olaciregui Dague, Karmele R., Hund, Ernst
Publicado 2021

Carbamazepine for Chronic Muscle Pain: A Retrospective Assessment of Indications, Side Effects, and Treatment Response

por Dyong, Tabea M., Gess, Burkhard, Dumke, Christina, Rolke, Roman, Dohrn, Maike F.
Publicado 2023

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

por Winter, Natalie, Dohrn, Maike F., Wittlinger, Julia, Loizides, Alexander, Gruber, Hannes, Grimm, Alexander
Publicado 2020

New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies

por Winter, Natalie, Vittore, Debora, Gess, Burkhard, Schulz, Jörg B., Grimm, Alexander, Dohrn, Maike F.
Publicado 2021

Immunoglobulins to mitigate paraneoplastic Lambert Eaton Myasthenic Syndrome under checkpoint inhibition in Merkel cell carcinoma

por Dohrn, Maike F., Schöne, Ulrike, Küppers, Charlotte, Christen, Deborah, Schulz, Jörg B., Gess, Burkhard, Tauber, Simone
Publicado 2020

Deep structured learning for variant prioritization in Mendelian diseases

por Danzi, Matt C., Dohrn, Maike F., Fazal, Sarah, Beijer, Danique, Rebelo, Adriana P., Cintra, Vivian, Züchner, Stephan
Publicado 2023

Semi-Automatic MRI Muscle Volumetry to Diagnose and Monitor Hereditary and Acquired Polyneuropathies

por Bähr, Friederike S., Gess, Burkhard, Müller, Madlaine, Romanzetti, Sandro, Gadermayr, Michael, Kuhl, Christiane, Nebelung, Sven, Schulz, Jörg B., Dohrn, Maike F.
Publicado 2021

Progressive multifocal leukoencephalopathy and immune reconstitution inflammatory syndrome in seven patients with sarcoidosis: a critical discussion of treatment and prognosis

por Dohrn, Maike F., Ellrichmann, Gisa, Pjontek, Rastislav, Lukas, Carsten, Panse, Jens, Gold, Ralf, Schulz, Jörg B., Gess, Burkhard, Tauber, Simone C.
Publicado 2021

Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP)

por Hube, Larissa, Dohrn, Maike F., Karsai, Gergely, Hirshman, Sarah, Van Damme, Philip, Schulz, Jörg B., Weis, Joachim, Hornemann, Thorsten, Claeys, Kristl G.
Publicado 2017

Clinical and paraclinical features of small fiber neuropathy in Sjögren’s syndrome

por Seeliger, Tabea, Dreyer, Henrike Neelke, Siemer, Janna Margaretha, Bönig, Lena, Gingele, Stefan, Dohrn, Maike Franziska, Prenzler, Nils, Ernst, Diana, Witte, Torsten, Skripuletz, Thomas
Publicado 2022

Deoxy-sphingolipids, oxidative stress, and vitamin C correlate with qualitative and quantitative patterns of small fiber dysfunction and degeneration

por Dohrn, Maike F., Dumke, Christina, Hornemann, Thorsten, Nikolin, Stefan, Lampert, Angelika, Espenkott, Volker, Vollert, Jan, Ouwenbroek, Annabelle, Zanella, Martina, Schulz, Jörg B., Gess, Burkhard, Rolke, Roman
Publicado 2022

The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease

por Cinarli Yuksel, Feride, Nicolaou, Paschalis, Spontarelli, Kerri, Dohrn, Maike F., Rebelo, Adriana P., Koutsou, Pantelitsa, Georghiou, Anthi, Artigas, Pablo, Züchner, Stephan L., Kleopa, Kleopas A., Christodoulou, Kyproula
Publicado 2023

Amyloidogenicity assessment of transthyretin gene variants

por Grether, Nicolai B., Napravnik, Felix, Imhof, Thomas, Linke, Reinhold P., Bräsen, Jan H., Schmitz, Jessica, Dohrn, Maike, Schneider, Christian, Svačina, Martin K. R., Stetefeld, Jörg, Koch, Manuel, Lehmann, Helmar C.
Publicado 2022

Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effect

por Le Cann, Kim, Meents, Jannis E., Sudha Bhagavath Eswaran, Vishal, Dohrn, Maike F., Bott, Raya, Maier, Andrea, Bialer, Martin, Hautvast, Petra, Erickson, Andelain, Rolke, Roman, Rothermel, Markus, Körner, Jannis, Kurth, Ingo, Lampert, Angelika
Publicado 2021

Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers

por Dohrn, Maike F., Heller, Corina, Zengeler, Diana, Obermaier, Carolin D., Biskup, Saskia, Weis, Joachim, Nikolin, Stefan, Claeys, Kristl G., Schöne, Ulrike, Beijer, Danique, Winter, Natalie, Achenbach, Pascal, Gess, Burkhard, Schulz, Jörg B., Mulahasanovic, Lejla
Publicado 2022

Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Aus...

por Dohrn, Maike F., Auer-Grumbach, Michaela, Baron, Ralf, Birklein, Frank, Escolano-Lozano, Fabiola, Geber, Christian, Grether, Nicolai, Hagenacker, Tim, Hund, Ernst, Sachau, Juliane, Schilling, Matthias, Schmidt, Jens, Schulte-Mattler, Wilhelm, Sommer, Claudia, Weiler, Markus, Wunderlich, Gilbert, Hahn, Katrin
Publicado 2020

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

por Lischka, Annette, Eggermann, Katja, Record, Christopher J, Dohrn, Maike F, Laššuthová, Petra, Kraft, Florian, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas, Beijer, Danique, Šoukalová, 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, Haack, Tobias B, Dufke, Andreas, Abele, Michael, Stucka, Rolf, Siddiqi, Saima, Ullah, Noor, Spranger, Stephanie, Chiabrando, Deborah, Bolgül, Behiye S, Parman, Yesim, Seeman, Pavel, Lampert, Angelika, Schulz, Jörg B, Wood, John N, Cox, James J, Auer-Grumbach, Michaela, Timmerman, Vincent, de Winter, Jonathan, Themistocleous, Andreas C, Shy, Michael, Bennett, David L, Baets, Jonathan, Hübner, Christian A, Leipold, Enrico, Züchner, Stephan, Elbracht, Miriam, Çakar, Arman, Senderek, Jan, Hornemann, Thorsten, Woods, C Geoffrey, Reilly, Mary M, Kurth, Ingo
Publicado 2023