Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S. J.
Neurochem. 2017 Dec;143(5):507-522. doi: 10.1111/jnc.14217. Epub 2017 Nov 7.
Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy.
Dohrn MF, Röcken C, De Bleecker JL, Martin JJ, Vorgerd M, Van den Bergh PY, Ferbert A, Hinderhofer K, Schröder JM, Weis J, Schulz JB, Claeys KG.
J Neurol. 2013 Dec;260(12):3093-108.
[Neuropathic pain syndromes and channelopathies].
Dohrn MF, Lampert A, Üçeyler N, Kurth I.
Internist (Berl). 2019 Jan;60(1):90-97.
Does APC/CCDH1 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 MF, Bolaños JP.
J Neurochem. 2019 Oct;151(1):8-10.
Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP).
Hube L, Dohrn MF, Karsai G, Hirshman S, Van Damme P, Schulz JB, Weis J, Hornemann T, Claeys KG.
PLoS One. 2017 Jan 23;12(1):e0170583.
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 literature.
Dohrn MF, Auer-Grumbach M, Baron R, Birklein F, Escolano-Lozano F, Geber C, Grether N, Hagenacker T, Hund E, Sachau J, Schilling M, Schmidt J, Schulte-Mattler W, Sommer C, Weiler M, Wunderlich G, Hahn K.
J Neurol. 2020 Jun 4.
Semi-automated volumetry of MRI serves as a biomarker in neuromuscular patients.
Müller M, Dohrn MF, Romanzetti S, Gadermayr M, Reetz K, Krämer NA, Kuhl C, Schulz JB, Gess B.
Muscle Nerve. 2020 May;61(5):600-607.
Role of high-resolution ultrasound in detection and monitoring of peripheral nerve tumor burden in neurofibromatosis in children.
Winter N, Dohrn MF, Wittlinger J, Loizides A, Gruber H, Grimm A.<
Childs Nerv Syst. 2020 Jun 19.
Elevation of plasma 1-deoxy-sphingolipids in type 2 diabetes mellitus: a susceptibility to neuropathy?
Dohrn MF, Othman A, Hirshman SK, Bode H, Alecu I, Fähndrich E, Karges W, Weis J, Schulz JB, Hornemann T, Claeys KG.
Eur J Neurol. 2015 May;22(5):806-14, e55.