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The neurological core features of the infantile‐onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.
- Published in:
- Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 279, doi. 10.1111/jns.12636
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- Article
Case report: Episodic ataxia without ataxia?
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1224241
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- Publication type:
- Article
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 5912, doi. 10.3390/ijms23115912
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- Article
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
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- Life (2075-1729), 2022, v. 12, n. 3, p. 402, doi. 10.3390/life12030402
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- Article
A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1753
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- Article
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
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- Annals of Human Genetics, 2020, v. 84, n. 5, p. 417, doi. 10.1111/ahg.12384
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- Article
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients.
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- Neurodegenerative Diseases, 2018, v. 18, n. 5/6, p. 310, doi. 10.1159/000497820
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- Article
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise".
- Published in:
- 2018
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- Publication type:
- letter
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 5, p. 473, doi. 10.1002/mgg3.238
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- Article
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results.
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- Journal of Genetic Counseling, 2015, v. 24, n. 4, p. 553, doi. 10.1007/s10897-015-9831-y
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- Article