List of works - Fanny Mochel

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity

scientific article published on 11 August 2014

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

scientific article published on 21 April 2017

Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease ⬇️

scientific article published on December 21, 2012

Abnormal response to cortical activation in early stages of Huntington disease ⬇️

scientific article published on April 19, 2012

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

scientific article

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases

article

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

scientific article

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

scientific article published on 06 June 2013

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

scientific article

Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes.

scientific article published on 14 June 2018

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

scientific article published on 12 May 2009

Clinical and genetic analysis of spinocerebellar ataxia in Mali ⬇️

scientific article published on March 21, 2011

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

scientific article published on 26 February 2018

Energy deficit in Huntington disease: why it matters ⬇️

scientific article published on February 1, 2011

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

scientific article published on 25 April 2019

Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

scientific article published on 18 June 2019

In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7

scientific article

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration

Lipids and synaptic functions

scientific article published on 04 June 2018

Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect

scientific article published on 04 April 2019

Low cancer prevalence in polyglutamine expansion diseases

scientific article published on 15 February 2017

Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease

Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation

scientific article

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

scientific article published on 20 August 2015

Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia ⬇️

scientific article published on November 11, 2012

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

scientific article published on 8 December 2017

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

scientific article published on 31 May 2017

Targeted versus untargeted omics - the CAFSA story

scientific article published on 8 February 2018

The phenotype of adult versus pediatric patients with inborn errors of metabolism

scientific article published on 06 June 2018

Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome

scientific article published on 06 November 2019

Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes

scientific article published on 20 March 2018

Triheptanoin for the treatment of brain energy deficit: A 14-year experience

scientific article

Validation of Plasma Branched Chain Amino Acids as Biomarkers in Huntington Disease ⬇️

scientific article published on February 1, 2011

List of works by Fanny Mochel

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease ⬇️

Abnormal response to cortical activation in early stages of Huntington disease ⬇️

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases

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

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

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

Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes.

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

Clinical and genetic analysis of spinocerebellar ataxia in Mali ⬇️

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Energy deficit in Huntington disease: why it matters ⬇️

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration

Lipids and synaptic functions

Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect

Low cancer prevalence in polyglutamine expansion diseases

Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease

Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia ⬇️

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

Targeted versus untargeted omics - the CAFSA story

The phenotype of adult versus pediatric patients with inborn errors of metabolism

Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome

Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes

Triheptanoin for the treatment of brain energy deficit: A 14-year experience

Validation of Plasma Branched Chain Amino Acids as Biomarkers in Huntington Disease ⬇️