about
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings.SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.Mutational mechanisms inMFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutationsCharcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation
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P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0002-9610-7544
@en
name
Stefania Magri
@ast
Stefania Magri
@en
Stefania Magri
@es
Stefania Magri
@nl
type
label
Stefania Magri
@ast
Stefania Magri
@en
Stefania Magri
@es
Stefania Magri
@nl
prefLabel
Stefania Magri
@ast
Stefania Magri
@en
Stefania Magri
@es
Stefania Magri
@nl
P106
P1153
35995473000
P21
P31
P496
0000-0002-9610-7544