Found: 15
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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1887, doi. 10.1093/brain/awad436
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- Publication type:
- Article
Thermosensibilité et déficits en protéine trifonctionnelle mitochondriale.
- Published in:
- Médecine Sciences, 2022, v. 38, p. 42, doi. 10.1051/medsci/2022181
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- Publication type:
- Article
Les neuropathies héréditaires associées au gène SORD.
- Published in:
- Médecine Sciences, 2021, v. 37, p. 30, doi. 10.1051/medsci/2021188
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- Publication type:
- Article
Les sarcoglycanopathies: État des lieux et perspectives thérapeutiques.
- Published in:
- Médecine Sciences, 2020, v. 36, p. 22, doi. 10.1051/medsci/2020243
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- Publication type:
- Article
Blood Markers in Healthy-Aged Nonagenarians: A Combination of High Telomere Length and Low Amyloidβ Are Strongly Associated With Healthy Aging in the Oldest Old.
- Published in:
- Frontiers in Aging Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnagi.2018.00380
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- Publication type:
- Article
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02591-4
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- Publication type:
- Article
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 105, doi. 10.1002/acn3.50967
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- Publication type:
- Article
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 7, p. 4008, doi. 10.1007/s00415-024-12298-0
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- Publication type:
- Article
Sjögren syndrome and RFC1-CANVAS sensory ganglionopathy: co-occurrence or misdiagnosis?
- Published in:
- Journal of Neurology, 2023, v. 270, n. 1, p. 460, doi. 10.1007/s00415-022-11382-7
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- Publication type:
- Article
SORD‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 7, p. 2001, doi. 10.1111/ene.15793
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- Publication type:
- Article
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 7, p. 2156, doi. 10.1111/ene.15310
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- Publication type:
- Article
Deep phenotyping of an international series of patients with late‐onset dysferlinopathy.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 6, p. 2092, doi. 10.1111/ene.14821
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- Publication type:
- Article
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
- Published in:
- Movement Disorders, 2024, v. 39, n. 1, p. 209, doi. 10.1002/mds.29680
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- Publication type:
- Article
Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".
- Published in:
- 2019
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- Publication type:
- Letter
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
- Published in:
- 2019
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- Publication type:
- journal article