F. Mochel

G. Bonvento, J. Valette, F. Mochel, 2017, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition

I. Haq, S. Bressman, L. Ozelius, 2019, Neurobiology of Disease.

Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.

F. Mochel, A. Moncla, R. Reynaud, 2008, European journal of medical genetics.

Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxia

A. Durr, A. Brice, F. Mochel, 2021, Neurobiology of Disease.

Cervical Spinal Cord Degeneration in Spinocerebellar Ataxia Type 7

J. Fernández-Ruiz, I. Harding, R. Díaz, 2021, American Journal of Neuroradiology.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

S. Tezenas du Montcel, C. Duyckaerts, A. Durr, 2019, Neurology.

Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes

R. Valabrègue, A. Durr, V. Perlbarg, 2018, NeuroImage: Clinical.

Multi-omics signature of brain amyloid deposition in asymptomatic individuals at-risk for Alzheimer's disease: The INSIGHT-preAD study

B. Dubois, A. Tenenhaus, B. Colsch, 2019, EBioMedicine.

Disorders of Complex Lipids

S. Wortmann, F. Mochel, F. Vaz, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

Lipids and synaptic functions

F. Mochel, 2018, Journal of Inherited Metabolic Disease.

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

D. Hernandez, A. Singleton, A. Durr, 2017, Neurodegenerative Diseases.

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

R. Schüle, M. Synofzik, F. Mochel, 2015, Biochemical and biophysical research communications.

Biomarker-guided clustering of Alzheimer's disease clinical syndromes

Michel Thiebaut de Schotten, H. Benali, N. Toschi, 2019, Neurobiology of Aging.

Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid

H. Nittono, P. Clayton, F. Mochel, 2014, Journal of Inherited Metabolic Disease.

Diagnosis, prognosis, and treatment of leukodystrophies

R. Schiffmann, M. Knaap, F. Mochel, 2019, The Lancet Neurology.

Respiratory chain defects may present only with hypoglycemia.

P. Rustin, F. Mochel, D. Rabier, 2005, The Journal of clinical endocrinology and metabolism.

Multiparametric in vivo analyses of the brain and spine identify structural and metabolic biomarkers in men with adrenomyeloneuropathy

R. Valabrègue, F. Mochel, D. Deelchand, 2021, NeuroImage: Clinical.

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

Pawel M. Switonski, A. Muotri, A. Durr, 2019, Cell reports.

Association of plasma YKL-40 with brain amyloid-β levels, memory performance, and sex in subjective memory complainers

Michel Thiebaut de Schotten, O. Sporns, L. Schneider, 2020, Neurobiology of Aging.

Plasma amyloid β 40/42 ratio predicts cerebral amyloidosis in cognitively normal individuals at risk for Alzheimer's disease

O. Sporns, L. Schneider, J. Lorenceau, 2019, Alzheimer's & Dementia.

Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.

D. Galanaud, T. Maisonobe, F. Mochel, 2018, Mitochondrion.

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies

C. Bodemer, Y. Crow, S. Orcesi, 2021, Journal of Clinical Immunology.

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19

K. Fischbeck, D. Shriner, C. Blackstone, 2010, neurogenetics.

Making a ‘JUMP’ from paediatric to adult healthcare: A transitional program for young adults with chronic neurological disease

M. Baulac, F. Mochel, Julie Bourmaleau, 2018, Journal of the Neurological Sciences.

Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases.

R. Schiffmann, O. Boespflug-Tanguy, F. Mochel, 2010, Biochimica et biophysica acta.

Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse

E. Génin, D. Bohl, J. Ricci, 2019, Acta Neuropathologica.

MRI of neurodegeneration with brain iron accumulation.

S. Lehéricy, F. Mochel, C. Goizet, 2020, Current opinion in neurology.

Latent class analysis identifies functional decline with Amsterdam IADL in preclinical Alzheimer's disease

H. Benali, B. Dubois, H. Bakardjian, 2019, Alzheimer's & Dementia.

Inborn Errors of Metabolism in Adults : A Diagnostic Approach to Neurological and Psychiatric

F. Sedel, F. Mochel, 2017 .

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

S. Lehéricy, R. Schiffmann, V. Czernecki, 2019, Journal of Neurology, Neurosurgery, and Psychiatry.

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

A. Ferbert, A. Durr, S. Forlani, 2013, American journal of human genetics.

Brain Aβ load association and sexual dimorphism of plasma BACE1 concentrations in cognitively normal individuals at risk for AD

O. Sporns, L. Schneider, J. Lorenceau, 2019, Alzheimer's & Dementia.

Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study

A. Federico, R. Steiner, M. Dotti, 2021, Orphanet Journal of Rare Diseases.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Y. Okazaki, J. Smeitink, L. P. Van den Heuvel, 2017, Brain : a journal of neurology.

Anaplerotic diet therapy in inherited metabolic disease: Therapeutic potential

F. Mochel, C. Roe, 2006, Journal of Inherited Metabolic Disease.

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

A. Durr, F. Lamari, G. Stevanin, 2018, Brain : a journal of neurology.

Factitious Hyperinsulinism Leading to Pancreatectomy: Severe Forms of Munchausen Syndrome by Proxy

C. Sempoux, F. Brunelle, F. Mochel, 2005, Pediatrics.

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome

S. Auvin, L. D. Da Costa, O. Boespflug-Tanguy, 2017, Annals of neurology.

Case definition and classification of leukodystrophies and leukoencephalopathies.

F. Eichler, A. Vanderver, R. Schiffmann, 2015, Molecular genetics and metabolism.

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.

N. Drouot, A. Durr, M. Koenig, 2014, JAMA neurology.

MiRNA-15b and miRNA-125b are associated with regional Aβ-PET and FDG-PET uptake in cognitively normal individuals with subjective memory complaints

O. Sporns, L. Schneider, J. Lorenceau, 2021, Translational Psychiatry.

A neuro-metabolic account of why daylong cognitive work alters the control of economic decisions

M. Pessiglione, F. Branzoli, F. Mochel, 2022, Current Biology.

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

Colin A. Ellis, I. Scheffer, P. Striano, 2022, Neurology.

Genetic testing and counseling for hereditary neurological diseases in Mali

K. Fischbeck, F. Mochel, Hae-Ra Han, 2011, Journal of Community Genetics.

A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood

M. Vidailhet, S. Rivaud-Pechoux, J. Corvol, 2017, Orphanet Journal of Rare Diseases.

Evaluation of CSF1R‐related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria

F. Portet, C. Marelli, O. Boespflug-Tanguy, 2021, European journal of neurology.

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

D. Hannequin, F. Etcharry-Bouyx, C. Marelli, 2018, American Journal of Neuroradiology.

Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration

P. Hogarth, F. Mochel, M. Kurian, 2021, Developmental medicine and child neurology.

Deciphering the natural history of SCA7 in children

A. Durr, D. Devos, C. Cazeneuve, 2020, European journal of neurology.

GLUT1 deficiency syndrome: An update Mise au point sur le syndrome de déficit en transporteur du glucose GLUT1

M. Vidailhet, F. Mochel, E. Roze, 2018 .

GLUT1 deficiency syndrome: an update.

M. Vidailhet, F. Mochel, E. Roze, 2014, Revue neurologique.

Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment

D. Galanaud, F. Sedel, F. Mochel, 2017, Orphanet Journal of Rare Diseases.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2018, Journal of Inherited Metabolic Disease.

Hypomyelinating leukodystrophies in adults

F. Mochel, 2021, European journal of neurology.

Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency

Gloria L. Porras-Hurtado, Y. Chien, C. Moreau, 2022, Journal of inherited metabolic disease.

Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum.

D. Galanaud, N. Weiss, M. Rudler, 2017, Journal of hepatology.

Cardiac Outcomes in Adults With Mitochondrial Diseases.

P. De Groote, V. Procaccio, A. Echaniz-Laguna, 2022, Journal of the American College of Cardiology.

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy

A. Moser, F. Eichler, G. Raymond, 2022, Neurology.

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins

A. Durr, J. Melki, O. Boespflug-Tanguy, 2019, Tremor and other hyperkinetic movements.

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

F. Mochel, J. Saudubray, 2018, Journal of Inherited Metabolic Disease.

Outline of metabolic diseases in adult neurology.

F. Mochel, 2015, Revue neurologique.

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

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians

F. Lamari, F. Mochel, J. Saudubray, 2019, Journal of inherited metabolic disease.

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

R. Schiffmann, O. Boespflug-Tanguy, F. Mochel, 2019, American Journal of Neuroradiology.

Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia

C. Lenglet, A. Durr, M. Pandolfo, 2022, Neurology: Genetics.

Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2022, Genes.

Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients

V. Rigalleau, C. Moreau, F. Mochel, 2021, Journal of inherited metabolic disease.

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

R. Schiffmann, R. Levy, A. Durr, 2012, Annals of neurology.

Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.

N. Boddaert, P. Sonigo, F. Brunelle, 2006, AJNR. American journal of neuroradiology.

Applicability of in vivo staging of regional amyloid burden in a cognitively normal cohort with subjective memory complaints: the INSIGHT-preAD study

O. Sporns, L. Schneider, J. Lorenceau, 2019, Alzheimer's Research & Therapy.

Promoting the clearance of neurotoxic proteins in neurodegenerative disorders of ageing

Michael R. Duchen, Ralph A. Nixon, Erwan Bezard, 2018, Nature Reviews Drug Discovery.

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2019, Journal of inherited metabolic disease.

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

Severe transient myopathy in a patient with progressive multiple sclerosis and high-dose biotin

T. Maisonobe, F. Mochel, B. Stankoff, 2019, Neurology.

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview

Fanny Mochel, Foudil Lamari, F. Lamari, 2015, Journal of Inherited Metabolic Disease.

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Olivier Sterkers, Fanny Mochel, Patrick Nitschke, 2017, American journal of human genetics.

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

R. Schiffmann, S. Demeret, F. Mochel, 2012, Gene.

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

G. Gyapay, A. Durr, F. Lamari, 2012, American journal of human genetics.

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

V. Perlbarg, M. Amador, F. Lamari, 2018, Journal of Inherited Metabolic Disease.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.

Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies

L. Schöls, M. Synofzik, F. Mochel, 2019, Neuron.

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

A. Singleton, M. Vidailhet, A. Durr, 2018, JAMA neurology.

A recessive ataxia diagnosis algorithm for the next generation sequencing era

M. Koenig, M. Pandolfo, M. Synofzik, 2017, Annals of neurology.

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

F. Mochel, G. Landouré, S. Coulibaly, 2012, Journal of Neurology.

Domino liver transplantation: the risk of disease recurrence.

F. Mochel, F. Conti, Y. Calmus, 2019, Clinics and research in hepatology and gastroenterology.

Lipids in the Physiopathology of Hereditary Spastic Paraplegias

G. Stevanin, F. Mochel, F. Darios, 2020, Frontiers in Neuroscience.

Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations

S. Petrou, S. Auvin, F. Mochel, 2019, Brain and Development.

Association of cerebrospinal fluid α-synuclein with total and phospho-tau181 protein concentrations and brain amyloid load in cognitively normal subjective memory complainers stratified by Alzheimer's disease biomarkers

O. Sporns, J. Lorenceau, H. Benali, 2018, Alzheimer's & Dementia.

French Intensive Care Society, International congress – Réanimation 2016

Paul P. Tallon, Stéphane Huot, B. Souweine, 2016, Annals of Intensive Care.

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

A. Durr, D. Hannequin, A. Brice, 2017, Brain : a journal of neurology.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.

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

A. Durr, B. Colsch, A. Brice, 2003, Cell reports.

ATAD 3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Y. Okazaki, J. Smeitink, S. Heales, 2017 .

Recurrent insertional polydactyly and situs inversus in a Bardet‐Biedl syndrome family

E. Souied, A. Verloes, H. Dollfus, 2007, American journal of medical genetics. Part A.

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

A. Durr, C. Depienne, A. Brice, 2015, Brain : a journal of neurology.

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Robert W. Taylor, J. Gagneur, E. Génin, 2016, American journal of human genetics.

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

F. Mochel, 2017, Journal of neuroscience research.

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency

R. Schiffmann, R. Valabrègue, L. Servais, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

R. Taft, Q. Waisfisz, R. Rodenburg, 2019, Neurology.

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

R. Valabrègue, A. Durr, L. Eberly, 2015, Movement disorders : official journal of the Movement Disorder Society.

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

A. Vanderver, R. Schiffmann, J. Thompson, 2010, Neurology.

Free sialic acid storage disease without sialuria

R. Schiffmann, D. Adams, M. Huizing, 2009, Annals of neurology.

A strategy for multimodal data integration: application to biomarkers identification in spinocerebellar ataxia

Arthur Tenenhaus, Imene Garali, Vincent Guillemot, 2018, Briefings Bioinform..

Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia

P. Lazo, P. Gómez-Puertas, F. Mochel, 2021, Neurology: Genetics.

Long‐term outcome of methylmalonic aciduria after kidney, liver, or combined liver‐kidney transplantation: The French experience

R. Salomon, F. Mochel, Y. Aigrain, 2020, Journal of inherited metabolic disease.

An overview of inborn errors of complex lipid biosynthesis and remodelling

Fanny Mochel, Foudil Lamari, F. Lamari, 2015, Journal of Inherited Metabolic Disease.

Ureaplasma parvum causes hyperammonemia presenting as refractory status epilepticus after kidney transplant.

N. Weiss, F. Mochel, S. Pereyre, 2020, Journal of critical care.

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

A. Durr, F. Lamari, G. Stevanin, 2017, European journal of medical genetics.

Parieto-occipital grey matter abnormalities in children with Williams syndrome

Arnaud Cachia, Nathalie Boddaert, Monica Zilbovicius, 2006, NeuroImage.

Biomarker-guided clustering of Alzheimer's disease clinical syndromes

Michel Thiebaut de Schotten, H. Benali, N. Toschi, 2019, Neurobiology of Aging.

Motor neuron pathology in CANVAS due to RFC1 expansions.

B. Gaymard, D. Grabli, A. Durr, 2021, Brain : a journal of neurology.

Diagnostic Procedures: Functional Tests and Post-mortem Protocol

F. Mochel, D. Rabier, G. Touati, 2012 .

Low cancer prevalence in polyglutamine expansion diseases

S. Tezenas du Montcel, A. Durr, A. Brice, 2017, Neurology.

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation

Alexandra Durr, Emmanuel Roze, Fanny Mochel, 2015, Developmental medicine and child neurology.

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

Nick C Fox, J. Hardy, M. Rossor, 2013, JAMA neurology.

Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases.

P. Laforêt, B. Eymard, T. Stojkovic, 2015, European heart journal.

The meta-memory ratio: a new cohort-independent way to measure cognitive awareness in asymptomatic individuals at risk for Alzheimer’s disease

S. Lehéricy, M. Lowrey, H. Bakardjian, 2020, Alzheimer's Research & Therapy.

Targeted versus untargeted omics — the CAFSA story

F. Jourdan, B. Colsch, F. Lamari, 2018, Journal of Inherited Metabolic Disease.

Implication of folate deficiency in CYP2U1 loss of function

A. Durr, F. Lamari, S. Picaud, 2021, The Journal of experimental medicine.

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

M. Vidailhet, D. Galanaud, A. Durr, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis.

S. Tezenas du Montcel, A. Durr, C. Depienne, 2023, Annals of physical and rehabilitation medicine.

No effect of triheptanoin on exercise performance in McArdle disease

P. Laforêt, R. Haller, A. Buch, 2019, Annals of clinical and translational neurology.

Life-threatening lactic acidosis occurring in adults with mitochondrial disorders.

P. Laforêt, B. Eymard, F. Mochel, 2019, Revue neurologique.

Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months.

F. Mochel, P. de Lonlay, M. Schiff, 2021, Molecular genetics and metabolism.

Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood

M. Amador, F. Lamari, F. Sedel, 2016, Orphanet Journal of Rare Diseases.

A Multimodal Omics Exploration of the Motor and Non-Motor Symptoms of Parkinson’s Disease

Edith Le Floch, M. Vidailhet, A. Tenenhaus, 2022, International Journal of Translational Medicine.

Energy deficit in Huntington disease: why it matters.

Fanny Mochel, R. Haller, F. Mochel, 2011, The Journal of clinical investigation.

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

F. Mochel, E. Roze, C. Jardel, 2018, Tremor and other hyperkinetic movements.

Multiparametric characterization of white matter alterations in early stage Huntington disease

A. Durr, F. Branzoli, F. Mochel, 2021, Scientific Reports.

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

A. Vanderver, Y. Crow, D. Lev, 2020, Human mutation.

Early Alterations of Brain Cellular Energy Homeostasis in Huntington Disease Models*

R. Schiffmann, A. Durr, James P. O'Callaghan, 2011, The Journal of Biological Chemistry.

Unexplicated hyperammonemic encephalopathy: remember the old urinary diversions!

B. Knebelmann, J. Mira, F. Mochel, 2016, Acta Neurologica Belgica.

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

Golder N Wilson, E. Roeder, D. Horn, 2020, Brain : a journal of neurology.

Expanded neurochemical profile in the early stage of Huntington disease using proton magnetic resonance spectroscopy

S. Lehéricy, A. Durr, F. Mochel, 2018, NMR in biomedicine.

A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome

R. Schiffmann, J. Hogrel, F. Mochel, 2018, Journal of Inherited Metabolic Disease.

Acute but transient neurological deterioration revealing adult polyglucosan body disease

F. Sedel, K. Claeys, P. Laforêt, 2013, Journal of the Neurological Sciences.

Altered Dopamine and Serotonin Metabolism in Motorically Asymptomatic R6/2 Mice

R. Schiffmann, A. Durr, F. Mochel, 2011, PloS one.

Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3

J. Diedrichsen, B. Bender, A. Durr, 2021, Movement disorders : official journal of the Movement Disorder Society.

Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1

A. Durr, M. Koenig, A. Dürr, 2007, Neurology.

Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome

M. Sitbon, O. Boespflug-Tanguy, F. Mochel, 2023, Neurology.

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

F. Mochel, E. Roze, A. Méneret, 2019, Journal of Neurology, Neurosurgery, and Psychiatry.

Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

L. Schöls, S. Groeschel, P. Mol, 2022, Orphanet Journal of Rare Diseases.

Triheptanoin – Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency

A. Schaller, M. Gautschi, F. Mochel, 2021, Molecular genetics and metabolism reports.

Triheptanoin improves brain energy metabolism in patients with Huntington disease

Romain Valabregue, Alexandra Durr, Fanny Mochel, 2015, Neurology.

Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease

A. Durr, C. Jauffret, P. Carlier, 2010, European Journal of Human Genetics.

Clinical and genetic analysis of spinocerebellar ataxia in Mali

K. Fischbeck, F. Mochel, G. Landouré, 2011, European journal of neurology.

A high prevalence of arterial hypertension in patients with mitochondrial diseases

P. Laforêt, B. Eymard, T. Stojkovic, 2019, Journal of inherited metabolic disease.

Education and training in adult metabolic medicine: Results of an international survey

M. Langeveld, R. Lachmann, F. Mochel, 2019, JIMD reports.

Subspecialty training in adult inherited metabolic diseases: a call to action for unmet needs.

L. Lynd, C. Stratakis, M. Langeveld, 2019, The lancet. Diabetes & endocrinology.

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.

C. Hollak, R. Lachmann, F. Mochel, 2015, JIMD reports.

Diagnosis and management of hepatic encephalopathy: The French recommendations

V. de Lédinghen, D. Galanaud, M. Rudler, 2023, Liver international : official journal of the International Association for the Study of the Liver.

Dopamine denervation in the functional territories of the striatum: a new MR and atlas-based 123I-FP-CIT SPECT quantification method

S. Lehéricy, M. Vidailhet, R. Valabrègue, 2021, Journal of Neural Transmission.

Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

G. Stevanin, F. Mochel, J. Saudubray, 2016, Brain : a journal of neurology.

Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease

K. Fischbeck, A. Vortmeyer, F. Mochel, 2009, neurogenetics.

Myopathy with Deficiency of ISCU

R. Haller, F. Mochel, 2016 .

Postauthorization safety study of betaine anhydrous

M. Baumgartner, H. Blom, F. Mochel, 2022, Journal of inherited metabolic disease.

Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial

F. Eichler, A. Fatemi, K. Hoffmann, 2023, The Lancet Neurology.

The Search for Sensitive Biomarkers in Presymptomatic Huntington Disease

F. Mochel, P. Henry, 2012, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Magnetic Resonance Spectroscopy in Huntington’s Disease

F. Mochel, J. Dubinsky, P. Henry, 2016 .

Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency

M. Baumgartner, C. Marelli, F. Mochel, 2020, Journal of inherited metabolic disease.

Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M).

F. Mochel, P. Jacquin, N. Belmatoug, 2018, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Human Mutation

A. Vanderver, H. Brunner, P. Fockens, 2019 .

Quantification of in vivo 31P NMR brain spectra using LCModel

Xiao-Hong Zhu, Fanny Mochel, Pierre-Gilles Henry, 2015, NMR in biomedicine.

N04 Anaplerotic Therapy Using Triheptanoin Improves Brain Energy Metabolism In Patients With Huntington Disease

R. Valabrègue, A. Durr, F. Mochel, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Multimodal neurometabolic investigation of the effects of zolpidem on leukoencephalopathy‐related apathy

M. Habert, F. Mochel, A. Kas, 2020, European journal of neurology.

Sex differences in functional and molecular neuroimaging biomarkers of Alzheimer's disease in cognitively normal older adults with subjective memory complaints

O. Sporns, L. Schneider, J. Lorenceau, 2018, Alzheimer's & Dementia.

Imaging and spectroscopic approaches to probe brain energy metabolism dysregulation in neurodegenerative diseases

G. Bonvento, J. Valette, F. Mochel, 2017, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Energy deficit in Huntington disease: why it matters.

R. Haller, F. Mochel, 2011, The Journal of clinical investigation.

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation

A. Durr, F. Mochel, E. Roze, 2015, Developmental medicine and child neurology.

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

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

Lipids and synaptic functions

F. Mochel, 2018, Journal of Inherited Metabolic Disease.

Differential default mode network trajectories in asymptomatic individuals at risk for Alzheimer's disease

Michel Thiebaut de Schotten, O. Sporns, L. Schneider, 2019, Alzheimer's & Dementia.

Cognitive and neuroimaging features and brain β-amyloidosis in individuals at risk of Alzheimer's disease (INSIGHT-preAD): a longitudinal observational study

S. Lehéricy, S. Durrleman, M. Lowrey, 2018, The Lancet Neurology.