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'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.
J Neuromuscul Dis. 2024;11(1):213-219. doi: 10.3233/JND-230110.
J Neuromuscul Dis. 2024.
PMID: 38143368
Free PMC article.
Infantile-Onset Charcot-Marie-Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature.
Frongia I, Rizzi S, Baga M, Ceteroni LM, Spagnoli C, Salerno GG, Frattini D, Kaare M, Pisani F, Fusco C.
Frongia I, et al.
Front Neurol. 2021 Sep 22;12:718808. doi: 10.3389/fneur.2021.718808. eCollection 2021.
Front Neurol. 2021.
PMID: 34630290
Free PMC article.
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A misleading case of deficiency of adenosine deaminase 2 (DADA2): the magnifying glass of the scientific knowledge drives the tailored medicine in real life.
Maccora I, Frongia I, Azzari C, Ricci S, Cimaz R, Simonini G.
Maccora I, et al. Among authors: frongia i.
Clin Exp Rheumatol. 2018 Nov-Dec;36(6 Suppl 115):146. Epub 2018 Jul 19.
Clin Exp Rheumatol. 2018.
PMID: 30148442
Free article.
No abstract available.
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