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Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A2024 American Journal of Ophthalmology Case Reports article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Cansu de Muijnck, Mary J. van Schooneveld, Astrid S. Plomp, Richard J. Rodenburg, Maria M. van Genderen, Camiel J. F. Boon
1citations -
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort2021 Journal of the Neurological Sciences article Neuroscience Hereditary Neurological Disorders Open access
Vívian Pedigone Cintra, Maike Franziska Dohrn, Pedro José Tomaselli, Fernanda Barbosa Figueiredo, Sandra Elisabete Marques, Sarah Camargos, +6 more
12citations -
Effective treatment of advanced Hodgkin lymphoma with a modified BEACOPP regimen for a patient with demyelinating hereditary motor and sensory neuropathy type 1 (HMSN1)
Patrick P Hess, Mónica S. Ventura Ferreira, Benjamin Rolles, Martin Kirschner, Florian Holtbernd, Mareike Tometten, +2 more
3citations -
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature2020 Journal of Neurology article Biochemistry, Genetics and Molecular Biology Amyloidosis: Diagnosis, Treatment, Outcomes Open access
Maike Franziska Dohrn, Michaela Auer‐Grumbach, Ralf Baron, Frank Birklein, Fabiola Escolano‐Lozano, Christian Geber, +11 more
36citations -
Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Hereditary Neurological Disorders Open access
Adriana P. Rebelo, Clemer Abad, Maike Franziska Dohrn, Jian J. Li, Ethan Kim Tieu, Jessica Medina, +8 more
2citations -
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia2022 European Journal of Neurology article Neuroscience Hereditary Neurological Disorders Open access
Danique Beijer, Maike Franziska Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese, Tanya Stojkovic, +9 more
31citations -
Longitudinal five-year follow-up by muscle MRI and high-resolution nerve ultrasound in hereditary neuropathies2026 Neurological Research and Practice article Neuroscience Hereditary Neurological Disorders Open access
Kim L. Vockert, Natalie Winter, F S Kirschmann, Jörg B. Schulz, Christiane Kuhl, Sven Nebelung, +2 more
0citations -
Targeting transthyretin ‐ Mechanism‐based treatment approaches and future perspectives in hereditary amyloidosis2020 Journal of Neurochemistry article Biochemistry, Genetics and Molecular Biology Amyloidosis: Diagnosis, Treatment, Outcomes Open access cited by 1 patent
Maike Franziska Dohrn, Sandra Michaela Ihne-Schubert, Ute Hegenbart, Jessica Medina, Stephan L. Zuchner, Teresa Coelho, +1 more
39citations -
Polyneuropathy in hereditary and wildtype transthyretin amyloidosis, comparison of key clinical features and red flags2025 Scientific Reports article Biochemistry, Genetics and Molecular Biology Amyloidosis: Diagnosis, Treatment, Outcomes Open access
Janna Margaretha Siemer, Lea Martha Grote-Levi, Anja Hänselmann, Mieke Luise Saßmann, Sandra Nay, Dominica Ratuszny, +12 more
9citations -
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A2024 Journal of the Peripheral Nervous System article Neuroscience Hereditary Neurological Disorders Open access
Isaac R. L. Xu, Matt Christopher Danzi, Jacquelyn Schatzman Raposo, Yeisha Arcia de Jesus, Mary M. Reilly, Andrea Cortese, +14 more
1citations