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List of works by Collette Hand

A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13 ⬇️

scientific article published on December 31, 2001

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

scientific article

A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.

scientific article

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q

scientific article

A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree.

scientific article published on 14 March 2012

Andersen–Tawil Syndrome With Early Fixed Myopathy

scientific article published on 01 December 2014

Familial amyotrophic lateral sclerosis

scientific article

Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct

scientific article

Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree

scientific article published on 8 April 2016

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis

scientific article (publication date: December 2003)

Mutations in GJB6 cause hidrotic ectodermal dysplasia

scientific article (publication date: October 2000)

Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families

scientific article

Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia

scientific article (publication date: February 2002)

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