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List of works by Alessia Micalizzi

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

scientific article published on January 2014

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect

scientific article

A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study

scientific article published on 2 April 2015

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

scientific article published on 02 March 2016

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article published on 12 September 2017

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

scientific article published on 27 September 2017

Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.

scientific article published on 27 August 2014

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

scientific article published on 17 July 2013

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

scientific article published on 5 May 2014

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

scientific article published on 06 May 2016

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

article

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

scientific article

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

scientific article

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation

scientific article published on 2 June 2016

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