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List of works by Edoardo Monfrini

A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.

scientific article published on 10 January 2015

Childhood-onset dystonia with cerebellar signs: expanding the spectrum of GNAL mutations

scientific article published on 17 March 2020

Clinical Reasoning: A 75-year-old man with parkinsonism, mood depression, and weight loss

scientific article published on 01 March 2018

Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

scientific article published on 24 April 2020

Expanding the genotypic and phenotypic spectrum of Beta-propeller-associated neurodegeneration (BPAN)

scientific article published on 12 December 2020

Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1.

scientific article published on 20 December 2017

GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort

scientific article published on 13 July 2020

Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?

scientific article published on 23 May 2018

Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation.

scientific article

Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations

scientific article published on 13 July 2020

Leucine-Rich Repeat Kinase (LRRK2) Genetics and Parkinson's Disease.

scientific article published on January 2017

Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease.

scientific article

Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy

scientific article published on 01 March 2019

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.

scientific article published on 26 August 2017

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