Marion Gaussen

Paris, 75013, France

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.

Journal: Annals of clinical and translational neurology
Published: June 06, 2016

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Journal: Brain : a journal of neurology
Published: February 07, 2015

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.

Journal: Neurology
Published: January 23, 2015

ELOVL5 mutations cause spinocerebellar ataxia 38.

ELOVL5 mutations cause spinocerebellar ataxia 38.

Journal: American journal of human genetics
Published: March 12, 2014

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

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

Journal: Journal of medical genetics
Published: December 10, 2013

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

Journal: American journal of human genetics
Published: November 11, 2013

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

Journal: American journal of human genetics
Published: April 07, 2013

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

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

Journal: American journal of human genetics
Published: June 28, 2012

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.

Journal: European journal of human genetics : EJHG
Published: January 20, 2012

RAD51 haploinsufficiency causes congenital mirror movements in humans.

RAD51 haploinsufficiency causes congenital mirror movements in humans.

Journal: American journal of human genetics
Published: October 06, 2011
Showing 1-10 of 10

Last Updated: 09/26/2026