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Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study.
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- Neuroradiology, 2022, v. 64, n. 3, p. 543, doi. 10.1007/s00234-021-02730-x
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- Article
The FGF14GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
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- Clinical Genetics, 2024, v. 105, n. 4, p. 446, doi. 10.1111/cge.14482
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- Article
Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late‐onset ataxia.
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- Clinical Genetics, 2021, v. 100, n. 1, p. 90, doi. 10.1111/cge.13960
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- Article
Transthyretin (Pro24Ser) variant amyloidosis: A case report of the first patient in Greece.
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- Hellenic Journal of Nuclear Medicine, 2023, v. 26, n. 2, p. 145
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- Article
Mutational screening of Greek patients with axonal Charcot‐Marie‐Tooth disease using targeted next‐generation sequencing: Clinical and molecular spectrum delineation.
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- Journal of the Peripheral Nervous System, 2023, v. 28, n. 4, p. 642, doi. 10.1111/jns.12598
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- Article
HINT1‐related neuropathy in Greek patients with Charcot‐Marie‐Tooth disease.
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- Journal of the Peripheral Nervous System, 2021, v. 26, n. 4, p. 444, doi. 10.1111/jns.12473
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- Article
Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot‐Marie‐Tooth disease reveals a varied and unusual phenotypic spectrum.
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- Journal of the Peripheral Nervous System, 2019, v. 24, n. 1, p. 125, doi. 10.1111/jns.12305
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- Article