AG
Alessandro Geroldi
Research areas: Neuroscience · Cellular and Molecular Neuroscience · Hereditary Neurological Disorders · Peripheral Neuropathies and Disorders · Cancer Treatment and Pharmacology
0000-0002-2208-9195
Employment
Employment history is unavailable.
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (46)
- Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA -Related Disorder/ Mitochondrial Trifunctional Protein Defect Save
- GWAS by Subtraction to Disentangle RBD Genetic Background from α-Synucleinopathies Save
- Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13. Save
- Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy. Save
- Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies Save
- Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation Save
- The neurological core features of the infantile‐onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family Save
- Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement Save
- Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature. Save
- A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers Save
- Case report: Episodic ataxia without ataxia? Save
- A misleading presentation of Mohr–Tranebjaerg syndrome: What is hidden behind an axonal neuropathy? Save
- The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment. Save
- Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years. Save
- A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement. Save
- Early onset demyelinating Charcot‐Marie‐Tooth disease caused by a novel in‐frame isoleucine deletion in peripheral myelin protein 2 Save
- A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? Save
- Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017. Save
- Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype. Save
- Expanding the spectrum of genes responsible for hereditary motor neuropathies. Save