Giovanni Stevanin

发表

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.

Í. Lopes-Cendes, S. Tsuji, A. Brice, 2001, American journal of human genetics.

Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.

H. Cann, Y. Agid, C. Duyckaerts, 1995, American journal of human genetics.

SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene

A. Durr, A. Brice, G. Stevanin, 2012, Acta neurologica Scandinavica.

Familial essential tremor and idiopathic torsion dystonia are different genetic entities

A. Dürr, A. Brice, G. Stevanin, 1993, Neurology.

Clinical and molecular features of spinocerebellar ataxia type 6

Y. Agid, S. Rivaud, A. Dürr, 1997, Neurology.

Hereditary spastic paraplegia: More than an upper motor neuron disease.

A. Durr, G. Stevanin, S. Fenu, 2017, Revue neurologique.

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

M. Ruberg, A. Dürr, P. Ribai, 2006, Neurology.

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

Y. Agid, A. Brice, G. Stevanin, 1992, Journal of medical genetics.

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity.

Y. Agid, A. Dürr, A. Brice, 1993, Brain : a journal of neurology.

Refinement of the SPG9 locus on chromosome 10q23.3‐24.2 and exclusion of candidate genes

R. Ravazzolo, G. Rouleau, G. Stevanin, 2008, European journal of neurology.