List of works - Naima Bouslam

A new phenotype linked to SPG27 and refinement of the critical region on chromosome

scientific article published on 6 March 2006

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

scientific article

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

scientific article

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

scientific article published on 24 January 2006

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity

scientific article published in May 2006

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

scientific article published on 6 December 2013

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

scientific article

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

scientific article

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

scientific article published on May 2016

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

scientific article published on June 2016

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

scientific article published on 18 February 2007

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

scientific article published in November 2005

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

scientific article

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

scientific article

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

article

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

scientific article published on 13 May 2006

List of works by Naima Bouslam

A new phenotype linked to SPG27 and refinement of the critical region on chromosome

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity