Publications by authors named "Stefan Nikolin"

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Altered NaV1.9 channel activity in two Tyr66Ser variant carriers with small fiber dysfunction.
Noortje W M van den Braak, Samuel Kuehs, Greta Z Peschke, Barbara Namer, Annette Lischka, Stefan Nikolin

J Gen Physiol· November 2025

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A Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders-Clinicohistologic Findings and Review of the Literature.
Alexander Mensch, Berit Jordan, Joachim Weis, Stefan Nikolin, Ilka Schneider

J Clin Neuromuscul Dis· December 2024

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Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
Felix Distelmaier, Abdullah Sezer, Christina Helm, Stephan Waldmüller, Annette Seibt, Stefan Nikolin

Brain· July 2024

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Applications of artificial intelligence in the analysis of histopathology images of gliomas: a review.
Jan-Philipp Redlich, Friedrich Feuerhake, Joachim Weis, Nadine S Schaadt, Sarah Teuber-Hanselmann, Stefan Nikolin

Npj Imaging· July 2024

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Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Juliane Bremer, Axel Meinhardt, Istvan Katona, Jan Senderek, Elke K Kämmerer-Gassler, Stefan Nikolin

Brain Pathol· January 2024

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Deoxy-sphingolipids, oxidative stress, and vitamin C correlate with qualitative and quantitative patterns of small fiber dysfunction and degeneration.
Maike F Dohrn, Christina Dumke, Thorsten Hornemann, Stefan Nikolin, Angelika Lampert

Pain· September 2022

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Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
Maike F Dohrn, Corina Heller, Diana Zengeler, Carolin D Obermaier, Saskia Biskup, Stefan Nikolin

Neurol Res Pract· February 2022

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Techniques for the standard histological and ultrastructural assessment of nerve biopsies.
Joachim Weis, Istvan Katona, Stefan Nikolin, Lucilla Nobbio, Valeria Prada

J Peripher Nerv Syst· November 2021

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Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation.
Priyanka Tripathi, Haihong Guo, Alice Dreser, Alfred Yamoah, Antonio Sechi, Stefan Nikolin

Cell Death Dis· May 2021

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Differential diagnosis of vacuolar myopathies in the NGS era.
Dorothea Mair, Saskia Biskup, Wolfram Kress, Angela Abicht, Wolfgang Brück, Stefan Nikolin

Brain Pathol· September 2020

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Accumulation of STIM1 is associated with the degenerative muscle fibre phenotype in ALS and other neurogenic atrophies.
Anand Goswami, Christofer Marvin Jesse, Akila Chandrasekar, Eva Bushuven, Jan Tilmann Vollrath, Stefan Nikolin

Neuropathol Appl Neurobiol· April 2015

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SOX10 mutation with peripheral amyelination and developmental disturbance of axons.
Kathleen Parthey, Malte Kornhuber, Christian Kunze, Dorothea Wand, Kay W Nolte, Stefan Nikolin

Muscle Nerve· February 2012

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Muscle biopsy substantiates long-term MRI alterations one year after a single dose of botulinum toxin injected into the lateral gastrocnemius muscle of healthy volunteers.
A Sebastian Schroeder, Birgit Ertl-Wagner, Stefanie Britsch, J Michael Schröder, Stefan Nikolin

Mov Disord· July 2009

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Postinfectious focal necrotizing myopathy.
Manuel Dafotakis, Roland Sparing, Simon B Eickhoff, Christian Boy, Stefan Nikolin

Clin Nucl Med· July 2008

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Experimental testing of a new left ventricular assist device--the microdiagonal blood pump.
Stefan Christiansen, Lütfü Demircan, Paul B Kwant, Mustafa Akdis, Steffen Rex, Stefan Nikolin

ASAIO J· December 2004

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