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Enrico Bugiardini

Showing results (31-40 of 66) with videos related to

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European Journal of Neurology|September 29, 2023
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataractsAndrea Cortese, Riccardo Currò, Riccardo Ronco, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 24, 2018
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathyEmer O'Connor, Jana Vandrovcova, Enrico Bugiardini, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|September 18, 2020
Mutation in <i>RNF170</i> causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimicAndrea Cortese, Ilaria Callegari, Riccardo Currò, et al.
Brain : a Journal of Neurology|November 14, 2018
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptomsMarisol Sampedro Castañeda, Edmar Zanoteli, Renata S Scalco, et al.
Biomolecules|October 28, 2023
Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat ExpansionsStefano Facchini, Natalia Dominik, Arianna Manini, et al.
Neurology. Genetics|February 12, 2020
Expanding the molecular and phenotypic spectrum of truncating <i>MT-ATP6</i> mutationsEnrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.
Human Molecular Genetics|May 1, 2019
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathyEnrico Bugiardini, Alice L Mitchell, Ilaria Dalla Rosa, et al.
Ebiomedicine|September 15, 2024
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingChristina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, et al.
Neurology. Genetics|May 24, 2019
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathyAlejandro Horga, Enrico Bugiardini, Andreea Manole, et al.
Nature Communications|November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencingWilliam L Macken, Micol Falabella, Caroline McKittrick, et al.
Pageof 7

Showing results (31-40 of 66) with videos related to

Sort By:
Pageof 7
European Journal of Neurology|September 29, 2023
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataractsAndrea Cortese, Riccardo Currò, Riccardo Ronco, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 24, 2018
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathyEmer O'Connor, Jana Vandrovcova, Enrico Bugiardini, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|September 18, 2020
Mutation in <i>RNF170</i> causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimicAndrea Cortese, Ilaria Callegari, Riccardo Currò, et al.
Brain : a Journal of Neurology|November 14, 2018
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptomsMarisol Sampedro Castañeda, Edmar Zanoteli, Renata S Scalco, et al.
Biomolecules|October 28, 2023
Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat ExpansionsStefano Facchini, Natalia Dominik, Arianna Manini, et al.
Neurology. Genetics|February 12, 2020
Expanding the molecular and phenotypic spectrum of truncating <i>MT-ATP6</i> mutationsEnrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.
Human Molecular Genetics|May 1, 2019
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathyEnrico Bugiardini, Alice L Mitchell, Ilaria Dalla Rosa, et al.
Ebiomedicine|September 15, 2024
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingChristina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, et al.
Neurology. Genetics|May 24, 2019
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathyAlejandro Horga, Enrico Bugiardini, Andreea Manole, et al.
Nature Communications|November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencingWilliam L Macken, Micol Falabella, Caroline McKittrick, et al.
Pageof 7