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Page 1
Differential diagnosis of vacuolar myopathies in the NGS era.
Mair D, Biskup S, Kress W, Abicht A, Brück W, Zechel S, Knop KC, Koenig FB, Tey S, Nikolin S, Eggermann K, Kurth I, Ferbert A, Weis J. Mair D, et al. Among authors: nikolin s. Brain Pathol. 2020 Sep;30(5):877-896. doi: 10.1111/bpa.12864. Epub 2020 Jun 15. Brain Pathol. 2020. PMID: 32419263 Free PMC article.
ALS-Associated Endoplasmic Reticulum Proteins in Denervated Skeletal Muscle: Implications for Motor Neuron Disease Pathology.
Jesse CM, Bushuven E, Tripathi P, Chandrasekar A, Simon CM, Drepper C, Yamoah A, Dreser A, Katona I, Johann S, Beyer C, Wagner S, Grond M, Nikolin S, Anink J, Troost D, Sendtner M, Goswami A, Weis J. Jesse CM, et al. Among authors: nikolin s. Brain Pathol. 2017 Nov;27(6):781-794. doi: 10.1111/bpa.12453. Epub 2017 Feb 15. Brain Pathol. 2017. PMID: 27790792 Free PMC article.
Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation.
Tripathi P, Guo H, Dreser A, Yamoah A, Sechi A, Jesse CM, Katona I, Doukas P, Nikolin S, Ernst S, Aronica E, Glaß H, Hermann A, Steinbusch H, Feller AC, Bergmann M, Jaarsma D, Weis J, Goswami A. Tripathi P, et al. Among authors: nikolin s. Cell Death Dis. 2021 May 10;12(5):466. doi: 10.1038/s41419-021-03710-y. Cell Death Dis. 2021. PMID: 33972508 Free PMC article.
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
Dohrn MF, Heller C, Zengeler D, Obermaier CD, Biskup S, Weis J, Nikolin S, Claeys KG, Schöne U, Beijer D, Winter N, Achenbach P, Gess B, Schulz JB, Mulahasanovic L. Dohrn MF, et al. Among authors: nikolin s. Neurol Res Pract. 2022 Feb 1;4(1):5. doi: 10.1186/s42466-022-00169-w. Neurol Res Pract. 2022. PMID: 35101151 Free PMC article.
Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Bremer J, Meinhardt A, Katona I, Senderek J, Kämmerer-Gassler EK, Roos A, Ferbert A, Schröder JM, Nikolin S, Nolte K, Sellhaus B, Popzhelyazkova K, Tacke F, Schara-Schmidt U, Neuen-Jacob E, de Groote CC, de Jonghe P, Timmerman V, Baets J, Weis J. Bremer J, et al. Among authors: nikolin s. Brain Pathol. 2024 Jan;34(1):e13200. doi: 10.1111/bpa.13200. Epub 2023 Aug 15. Brain Pathol. 2024. PMID: 37581289 Free PMC article.
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
Distelmaier F, Sezer A, Helm C, Waldmüller S, Seibt A, Gangfuß A, Kölbel H, Schara-Schmidt U, Yuksel D, Talim B, Mayatepek E, Nikolin S, Weis J, Roos A, Haack TB. Distelmaier F, et al. Among authors: nikolin s. Brain. 2024 Jul 5;147(7):e45-e49. doi: 10.1093/brain/awae099. Brain. 2024. PMID: 38637313 No abstract available.
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.
Schroeder AS, Ertl-Wagner B, Britsch S, Schröder JM, Nikolin S, Weis J, Müller-Felber W, Koerte I, Stehr M, Berweck S, Borggraefe I, Heinen F. Schroeder AS, et al. Among authors: nikolin s. Mov Disord. 2009 Jul 30;24(10):1494-503. doi: 10.1002/mds.22661. Mov Disord. 2009. PMID: 19489066 Clinical Trial.
56 results