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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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- Publication type:
- Article
Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.
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- Clinical Genetics, 1995, v. 47, n. 6, p. 281, doi. 10.1111/j.1399-0004.1995.tb03965.x
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- Publication type:
- Article
The Genoa experience of prenatal diagnosis in NF1.
- Published in:
- 2000
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- Publication type:
- journal article
A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1753
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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
Mutation Analysis of CCM1, CCM2 and CCM3 Genes in a Cohort of Italian Patients with Cerebral Cavernous Malformation.
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- Brain Pathology, 2011, v. 21, n. 2, p. 215, doi. 10.1111/j.1750-3639.2010.00441.x
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- Publication type:
- Article
SOD1 mutations in amyotrophic lateral sclerosis.
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- Journal of Neurology, 2005, v. 252, n. 7, p. 782, doi. 10.1007/s00415-005-0742-y
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- Publication type:
- Article
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.
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- Muscle & Nerve, 2022, v. 65, n. 1, p. 96, doi. 10.1002/mus.27448
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- Publication type:
- Article
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1.
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- Human Mutation, 2016, v. 37, n. 11, p. 1202, doi. 10.1002/humu.23062
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- Publication type:
- Article
Erratum: Novel MC1R variants in ligurian melanoma patients and controls.
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- Human Mutation, 2004, v. 24, n. 3, p. 274, doi. 10.1002/humu.9271
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- Publication type:
- Article
Novel MC1R variants in Ligurian melanoma patients and controls.
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- Human Mutation, 2004, v. 24, n. 1, p. 103, doi. 10.1002/humu.9253
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- Publication type:
- Article
Erratum: Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients<FN ID="fn1">Communicated by Mark H. Paalman</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #656 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/656.pdf</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 341, doi. 10.1002/humu.9185
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- Publication type:
- Article
Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #637 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf)
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- Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166
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- Publication type:
- Article
Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patientsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #637 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf
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- Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166
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- Publication type:
- Article
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.
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- Human Mutation, 2002, v. 20, n. 1, p. 74, doi. 10.1002/humu.9039
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- Publication type:
- Article
The neurological core features of the infantile‐onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.
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- Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 279, doi. 10.1111/jns.12636
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- Publication type:
- Article
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
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- Journal of the Peripheral Nervous System, 2023, v. 28, n. 4, p. 620, doi. 10.1111/jns.12602
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- Publication type:
- Article
Early onset demyelinating Charcot‐Marie‐Tooth disease caused by a novel in‐frame isoleucine deletion in peripheral myelin protein 2.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 102, doi. 10.1111/jns.12375
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- Publication type:
- Article
A case of Huntington disease‐like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era.
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- 2022
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- Publication type:
- Case Study
Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson's Disease.
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- Journal of Genetic Counseling, 2017, v. 26, n. 3, p. 442, doi. 10.1007/s10897-017-0088-5
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article