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Alessandro Geroldi

chu bordeaux
H指数:16
被引数:797

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Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies
2024-09-090
OAAI
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family
2024-06-140
PRE
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy

髓磷脂蛋白零相关神经病的表型谱: 来自意大利五个突变簇的大型队列研究

2024-06-050
OAAI
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement
2024-05-011
PRE
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers
2023-11-132
OAAI
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment
2022-08-107
OAAI
Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years
2022-03-107
OAAI
Expanding the spectrum of genes responsible for hereditary motor neuropathies
2019-06-0537
PREAI
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)
2019-05-2733
OAAI