Stefan Nicolau
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Explore the profile of Stefan Nicolau including associated specialties, affiliations and a list of published articles.
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31
Citations
178
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Recent Articles
1.
De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, et al.
Genet Med
. 2025 Mar;
:101399.
PMID: 40023774
Purpose: Heterozygous pathogenic variants in SPTAN1 cause a diverse spectrum of neurogenetic disorders ranging from peripheral and central nervous system involvement to complex syndromic presentations. We set out to investigate...
2.
Santilli A, Ni O, Milone M, Selcen D, Mehrabyan A, Seth A, et al.
Neurology
. 2024 Oct;
103(10):e210001.
PMID: 39475687
Objectives: To describe a novel subtype of autoimmune myopathy, immune-mediated megaconial myopathy (IMMM), myopathologically characterized by giant mitochondria (megaconia). Methods: In this case series, we reviewed the Mayo Clinic Muscle...
3.
De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, et al.
medRxiv
. 2024 Oct;
PMID: 39371122
Background: Neurogenetic disorders caused by pathogenic variants in four genes encoding non-erythrocytic spectrins ( range from peripheral and central nervous system involvement to complex syndromic presentations. Heterozygous pathogenic variants in...
4.
Nicolau S, Malhotra J, Kaler M, Magistrado-Coxen P, Iammarino M, Reash N, et al.
J Neuromuscul Dis
. 2024 Mar;
11(3):679-685.
PMID: 38461513
Single exon duplications account for disease in a minority of Duchenne muscular dystrophy patients. Exon skipping in these patients has the potential to be highly therapeutic through restoration of full-length...
5.
Nicolau S, Milone M
Curr Neurol Neurosci Rep
. 2023 Oct;
23(11):777-784.
PMID: 37856049
Purpose Of Review: Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset, acquired, muscle disease that can be associated with monoclonal gammopathy or HIV infection. The pathological hallmark of SLONM...
6.
Stephenson A, Nicolau S, Vetter T, Dufresne G, Frair E, Sarff J, et al.
Mol Ther Methods Clin Dev
. 2023 Sep;
30:486-499.
PMID: 37706184
Duchenne muscular dystrophy is an X-linked disorder typically caused by out-of-frame mutations in the gene. Most of these are deletions of one or more exons, which can theoretically be corrected...
7.
Nicolau S, Dasgupta A, Dasari S, Charlesworth M, Johnson K, Pandey A, et al.
Acta Neuropathol Commun
. 2023 Jan;
11(1):20.
PMID: 36703211
Acquired sporadic late onset nemaline myopathy (SLONM) and inherited nemaline myopathy (iNM) both feature accumulation of nemaline rods in muscle fibers. Unlike iNM, SLONM is amenable to therapy. The distinction...
8.
Granger A, Beecher G, Liewluck T, Nicolau S, Flanigan K, Laughlin R, et al.
Neuromuscul Disord
. 2023 Jan;
33(2):153-160.
PMID: 36628841
A rare disorder in the USA is one that affects <200,000 people, making inherited myopathies rare diseases. Increasing access to genetic testing has been instrumental for the diagnosis of inherited...
9.
OConnor T, Bersselaar L, Chen Y, Nicolau S, Simon B, Huseth A, et al.
J Neuromuscul Dis
. 2022 Nov;
10(1):135-154.
PMID: 36404556
No abstract available.
10.
Pritt B, Mathison B, Bradbury R, Liewluck T, Nicolau S, OHoro J, et al.
Emerg Infect Dis
. 2022 Oct;
28(11):2281-2284.
PMID: 36286008
We report an imported case of myositis caused by a rare parasite, Haycocknema perplexum, in Australia in a 37-year-old man who had progressive facial, axial, and limb weakness, dysphagia, dysphonia,...