C. Goizet

发表

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

A. Durr, S. Forlani, A. Brice, 2009, Brain : a journal of neurology.

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

C. Ponting, D. Bonthron, E. Bertini, 2006, Nature Genetics.

Hereditary optic neuropathies share a common mitochondrial coupling defect

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2008, Annals of neurology.

Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping

H. Cochet, C. Rooryck, D. Lacombe, 2020, The International Journal of Cardiovascular Imaging.

SCA27 is a cause of early-onset ataxia and developmental delay.

C. Rooryck, D. Lacombe, C. Goizet, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

Hans H. Jung, C. Tilikete, M. Koenig, 2018, JAMA neurology.

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients

Alain Calender, Laurence Faivre, E. Babin, 2006, Human mutation.

STROKE FOLLOWING PULMONARY ARTERIOVENOUS FISTULA EMBOLIZATION IN A PATIENT WITH HHT

M. Montaudon, I. Sibon, C. Goizet, 2008, Neurology.

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

E. Bertini, C. Garel, R. Touraine, 2012, Orphanet Journal of Rare Diseases.

Too many numbers and complexity: time to update the classifications of neurogenetic disorders?

J. Vallat, C. Goizet, L. Magy, 2015, Journal of Medical Genetics.

Charcot–Marie–Tooth diseases: an update and some new proposals for the classification

J. Vallat, C. Goizet, L. Magy, 2015, Journal of Medical Genetics.

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.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

L. Lagae, A. Vanderver, K. Devriendt, 2015, American journal of medical genetics. Part A.

Heterogeneity of Platelet Functional Alterations in Patients With Filamin A Mutations

P. Fergelot, M. Bryckaert, P. Nurden, 2013, Arteriosclerosis, thrombosis, and vascular biology.

Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.

M. Holder-Espinasse, D. Lacombe, D. Bonneau, 2010, European journal of medical genetics.

Mini‐Exome Coupled to Read‐Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

M. Koenig, P. Calvas, C. Geny, 2016, Human mutation.

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

M. Tekin, K. Arnos, A. Pandya, 2009, European Journal of Human Genetics.

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles

L. Christa, C. Barnérias, I. Desguerre, 2018, Journal of Inherited Metabolic Disease.

Zebrafish models of human motor neuron diseases: Advantages and limitations

C. Goizet, D. Raldúa, P. J. Babin, 2014, Progress in Neurobiology.

COL4A1 mutation in Axenfeld–Rieger anomaly with leukoencephalopathy and stroke

J. Orgogozo, V. Dousset, P. Calvas, 2007, Annals of neurology.

Efficacy and safety of propranolol for epistaxis in hereditary haemorrhagic telangiectasia: retrospective, then prospective study, in a total of 21 patients

J. Viallard, P. Duffau, C. Goizet, 2017, Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery.

Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I.

D. Lacombe, F. Tison, I. Sibon, 2011, European journal of medical genetics.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

J. Gécz, A. Green, B. Echenne, 2009, European Journal of Human Genetics.

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

V. Fraix, L. Kremer, M. Koenig, 2021, Genetics in Medicine.

Coexistence of schwannomatosis and glioblastoma in two families.

M. Vidaud, B. Parfait, C. Goizet, 2019, European journal of medical genetics.

Genetics of amyotrophic lateral sclerosis: A review

G. L. Masson, J. Vallat, C. Goizet, 2019, Journal of the Neurological Sciences.

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

J. Yates, A. Vanderver, D. Timmann, 2015, Nature Communications.

Behavioral and temperamental features of children with Costello syndrome

M. Bouvard, N. Philip, D. Lacombe, 2006, American journal of medical genetics. Part A.

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2005, Archives of otolaryngology--head & neck surgery.

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

H. Mefford, O. Devinsky, A. Bayat, 2022, EBioMedicine.

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

A. Durr, J. Melki, S. Hanein, 2009, Neurology.

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

D. Lacombe, S. Aymé, M. Breuning, 1998, American journal of medical genetics.

MRI of neurodegeneration with brain iron accumulation.

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

Consequences of cathepsin C inactivation on membrane expression of proteinase 3 , the target antigen in autoimmune vasculitis

M. Battino, J. Stéphan, I. Chapple, 2018 .

Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis

M. Battino, J. Stéphan, I. Chapple, 2018, The Journal of Biological Chemistry.

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

C. Schwartz, S. Lenzner, H. Van Esch, 2005, Journal of Medical Genetics.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Enrico Amico, Philippe Allain, Mark Mühlau, 2017, The Lancet. Neurology.

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

P. Derambure, P. Fergelot, S. Rheims, 2021, Orphanet Journal of Rare Diseases.

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

P. Fergelot, C. Marchal, C. Rooryck, 2012, European journal of medical genetics.

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.

E. Haan, S. Robertson, L. Faivre, 2011, European journal of medical genetics.

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

C. Marchal, A. Toutain, N. Philip, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

M. Polak, D. Lacombe, S. Romana, 2009, Human molecular genetics.

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing.

B. Dubois, J. Pariente, M. Ruberg, 2013, Journal of Alzheimer's disease : JAD.

Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498‐499InsTC)

O. Rascol, B. Ghetti, P. Payoux, 2009, Movement disorders : official journal of the Movement Disorder Society.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

A. Vanderver, R. Schiffmann, D. Timmann, 2020, The Journal of clinical endocrinology and metabolism.

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

E. Bertini, A. Vanderver, D. Timmann, 2019, Neurology. Genetics.

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

A. Vanderver, B. Brais, C. Stevens, 2013, Journal of Medical Genetics.

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.

E. Bertini, D. Pham‐Dinh, R. Surtees, 2001, American journal of human genetics.

Ophthalmological features associated with COL4A1 mutations.

I. Sibon, C. Goizet, M. Miné, 2010, Archives of ophthalmology.

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia

G. Másson, C. Goizet, X. Ferrer, 2004, Journal of Medical Genetics.

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

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

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

C. Tilikete, F. Lamari, V. Deramecourt, 2018, Orphanet Journal of Rare Diseases.

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.

D. Lacombe, F. Tison, S. Lyonnet, 2002, Neurology.

Leber’s optic neuropathy associated with disseminated white matter disease: A case report and review

B. Brochet, M. Martin-Négrier, C. Goizet, 2009, Clinical Neurology and Neurosurgery.

Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations

F. Salachas, J. Pouget, T. Maisonobe, 2017, Human mutation.

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

A. Toutain, L. Pasquier, L. Richard, 2019, Molecular genetics & genomic medicine.

From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene

F. Sturtz, C. Goizet, P. Derouault, 2022, Journal of personalized medicine.

A French family with Charcot–Marie–Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations

F. Tison, P. Latour, C. Goizet, 2012, Neuromuscular Disorders.

Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis

T. Eggermann, K. Huehne, B. Rautenstrauss, 2008, Neuromuscular Disorders.

Analysis of urinary cathepsin C for diagnosing Papillon – Lef (cid:1) evre syndrome

A. Vlahou, P. Fergelot, M. Battino, 2016 .

Classifications of neurogenetic diseases: An increasingly complex problem.

J. Vallat, P. Couratier, C. Goizet, 2016, Revue neurologique.

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach

P. Calvas, M. Cossée, C. Rooryck, 2022, Scientific Reports.

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

N. Elleuch, A. Brice, G. Stevanin, 2009, Clinical genetics.

Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis

E. Pasmant, M. Vidaud, D. Vidaud, 2018, Neuro-oncology.

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

P. Vermersch, M. Giroud, M. Clanet, 2015, Brain : a journal of neurology.

Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.

A. Toutain, T. Jouary, D. Lacombe, 2008, The Journal of investigative dermatology.

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

A. Durr, S. Forlani, C. Depienne, 2009, Human mutation.

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy

C. Rooryck, D. Lacombe, L. Taine, 2004, European Journal of Human Genetics.

AP4 deficiency

F. Rivier, B. Echenne, R. Horvath, 2018, Neurology: Genetics.

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.

D. Halley, W. Lissens, A. Jansen, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A. Vanderver, R. Schiffmann, A. Majnemer, 2018, Pediatric 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.

Non-specific gastrointestinal features: Could it be Fabry disease?

A. Gasbarrini, E. Arbustini, D. Lacombe, 2018, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

Majida Charif, G. Lenaers, C. Goizet, 2015, Frontiers in Genetics.

Histopathological features of X‐linked Charcot‐Marie‐Tooth disease in 8 patients from 6 families with different connexin32 mutations

K. Petry, P. Latour, C. Goizet, 2001, Journal of the peripheral nervous system : JPNS.

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED

A. Durr, G. Stevanin, P. Pennamen, 2018, Clinical Neurology and Neurosurgery.

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

M. Votruba, C. La Morgia, P. Yu-Wai-Man, 2020, Neurology: Genetics.

The different clinical facets of SYN1-related neurodevelopmental disorders

F. Benfenati, P. Striano, L. Mazzola, 2022, Frontiers in Cell and Developmental Biology.

Disrupted filamin A/αIIbβ3 interaction induces macrothrombocytopenia by increasing RhoA activity.

M. Bryckaert, N. Balayn, W. Vainchenker, 2019, Blood.

A randomized, double‐blind, placebo‐controlled trial evaluating cysteamine in Huntington's disease

A. Durr, P. Krystkowiak, A. Bachoud-Lévi, 2017, Movement disorders : official journal of the Movement Disorder Society.

Head drops are also observed in advanced Huntington disease.

U. Spampinato, A. Danek, F. Tison, 2013, Parkinsonism & related disorders.

Sight-threatening phenylketonuric encephalopathy in a young adult, reversed by diet.

H. Gin, V. Rigalleau, C. Marchal, 2013, JIMD reports.

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

S. Klebe, C. van Broeckhoven, A. Durr, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Fetal phenotypes in otopalatodigital spectrum disorders

P. Fergelot, J. Melki, A. Verloes, 2016, Clinical genetics.

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2004, American journal of medical genetics. Part A.

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

J. Honnorat, J. Saurin, E. Buscarini, 2007, Genetics in Medicine.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21

L. Lagae, H. Brunner, Y. Crow, 2005, Journal of Medical Genetics.

Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review

S. Lepreux, F. Boralevi, Pierre Vabres, 2005, The British journal of dermatology.

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

C. Phornphutkul, C. Goizet, D. Barbouth, 2015, Orphanet Journal of Rare Diseases.

Perrault syndrome: Report of four new cases, review and exclusion of candidate genes

F. Denoyelle, D. Lacombe, D. Bonneau, 2008, American journal of medical genetics. Part A.

A patient with hydranencephaly and PEHO-like dysmorphic features.

D. Lacombe, J. Pedespan, C. Goizet, 2003, Annales de genetique.

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment

D. Bouhassira, J. Politei, N. Üçeyler, 2016, CNS neuroscience & therapeutics.

History and current difficulties in classifying inherited myopathies and muscular dystrophies

G. L. Masson, J. Vallat, P. Couratier, 2018, Journal of the Neurological Sciences.

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.

F. Denoyelle, V. Drouin‐Garraud, B. Gilbert-Dussardier, 2010, International journal of pediatric otorhinolaryngology.

Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH.

M. Bouvard, D. Lacombe, L. Taine, 2000, American journal of medical genetics.

Primary brain calcification: an international study reporting novel variants and associated phenotypes

D. Geschwind, M. Vidailhet, D. Galasko, 2018, European Journal of Human Genetics.

Primary brain calcification: an international study reporting novel variants and associated phenotypes

D. Geschwind, M. Vidailhet, D. Galasko, 2018, European Journal of Human Genetics.

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

D. Geschwind, P. Svenningsson, J. Pariente, 2015, Nature Genetics.

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho‐functional dysfunction

A. Durr, D. Hannequin, S. Forlani, 2011, Human mutation.

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

A. Durr, M. Hutchinson, S. Hanein, 2008, American journal of human genetics.

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

F. Pasquier, A. Durr, D. Hannequin, 2008, Brain : a journal of neurology.

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.

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

Patricia Fergelot, Paquita Nurden, William Vainchenker, 2011, Blood.

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

N. Boddaert, A. Toutain, M. Picot, 2017, Clinical Genetics.

Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?

D. Vidaud, D. Lacombe, C. Goizet, 2014, European journal of medical genetics.

Presymptomatic testing in Huntington’s disease and autosomal dominant cerebellar ataxias

A. Durr, A. Dürr, C. Goizet, 2002, Neurology.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

N. Drouot, A. Durr, L. Schöls, 2009, Brain : a journal of neurology.

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

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

Array‐CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum

C. Rooryck, C. Goizet, B. Arveiler, 2010, American journal of medical genetics. Part A.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

K. Dujardin, A. Destée, L. Buée, 2014, Brain : a journal of neurology.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

J. Gécz, A. Green, B. Echenne, 2009, European Journal of Human Genetics.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.

A. Represa, C. Pellegrino, E. Buhler, 2012, Human molecular genetics.

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

P. Jouk, F. Escande, C. Goizet, 2020, Human mutation.

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.

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.

C. Lelliott, B. Yalcin, P. Grant, 2020, American journal of human genetics.

Natural History of Adult Patients with GM2 Gangliosidosis

F. Lamari, F. Ory-Magne, C. Goizet, 2020 .

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

S. Tezenas du Montcel, C. Duyckaerts, A. Durr, 2018, Brain : a journal of neurology.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2018, Clinical genetics.

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France

S. Pinson, F. Coulet, F. Soubrier, 2004, Human mutation.

Deletion submicroscopique du chromosome 16p13.3: etude d'une serie de patients francais porteurs du syndrome de rubinstein-taybi

D. Lacombe, M. Breuning, C. Goizet, 1997 .

Late-onset presentation of neurometabolic diseases: diagnostic flowchart revisited

C. Goizet, 2020, Journal of Neurology, Neurosurgery, and Psychiatry.

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

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

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.

P. Bauer, P. Latour, C. Hendriksz, 2016, Molecular genetics and metabolism.

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

P. Holmans, S. Tabrizi, A. Durr, 2016, Annals of neurology.

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

H. Smeets, M. Koenig, J. Mandel, 2010, Human molecular genetics.

Phenotypic heterogeneity in AAAS gene mutation

C. Goizet, P. Barat, O. Puel, 2004, Acta paediatrica.

Analysis of urinary cathepsin C for diagnosing Papillon–Lefèvre syndrome

A. Vlahou, P. Fergelot, M. Battino, 2016, The FEBS journal.

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.

Y. Agid, S. Rivaud-Pechoux, M. Koenig, 2004, Brain : a journal of neurology.

Neutrophil-derived mitochondrial DNA promotes receptor activator of nuclear factor &kgr;B and its ligand signalling in rheumatoid arthritis

E. Lazaro, P. Blanco, R. Rossignol, 2017, Rheumatology.

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

T. Pierson, C. Toro, D. Mazza, 2019, Journal of Medical Genetics.

PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1

P. Fergelot, P. Pennamen, C. Rooryck, 2019, American journal of medical genetics. Part A.

Understanding the Early Presentation of Mucopolysaccharidoses Disorders: Results of a Systematic Literature Review and Physician Survey

John J. Mitchell, K. White, F. Stewart, 2018 .

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

M. Vidailhet, A. Durr, M. Polak, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Association between caffeine intake and age at onset in Huntington's disease

L. Defebvre, A. Destée, L. Buée, 2013, Neurobiology of Disease.

Predictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia

A. Durr, A. Dürr, C. Goizet, 2002, Journal of medical genetics.

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

R. Abou Jamra, M. V. van Slegtenhorst, C. Goizet, 2020, Molecular genetics & genomic medicine.

Ancestral origins of the prion protein gene D178N mutation in the Basque Country

J. Yagüe, M. Pancorbo, R. Sánchez-Valle, 2005, Human Genetics.

Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.

F. Mauguière, S. Vukusic, C. Confavreux, 2009, Brain : a journal of neurology.

[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].

F. Mauguière, F. Sedel, S. Vukusic, 2011, Revue neurologique.

Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease

V. Dousset, B. Brochet, O. Boespflug-Tanguy, 2008, Clinical Neurology and Neurosurgery.

[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].

I. Durieu, Z. Amoura, C. Goizet, 2017, La Revue de medecine interne.

Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.

D. Lacombe, O. Boespflug-Tanguy, J. Pedespan, 2019, Pediatric neurology.

18p monosomy with midline defects and a de novo satellite identified by FISH.

D. Lacombe, L. Taine, C. Goizet, 1997, Annales de genetique.

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

C. Möller, M. Koenig, D. Lacombe, 2017, Neurobiology of Disease.

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

P. Robinson, E. Arbustini, C. Béroud, 2012, American journal of human genetics.

The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations

F. Salachas, N. le Forestier, A. Echaniz-Laguna, 2020, Orphanet Journal of Rare Diseases.

High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders

M. Sarazin, F. Lamari, D. Wallon, 2020, Journal of Neurology.

Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K

D. Bonneau, G. Lenaers, P. Reynier, 2020, Experimental Neurology.

LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2

P. Latour, T. Stojkovic, C. Goizet, 2019, European Journal of Human Genetics.

LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2

P. Latour, T. Stojkovic, C. Goizet, 2019, European Journal of Human Genetics.

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

A. Hoischen, N. Drouot, J. Veltman, 2010, American journal of human genetics.

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

H. Mefford, H. Rehm, M. Koenig, 2021, Brain : a journal of neurology.

Implication of folate deficiency in CYP2U1 loss of function

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

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

A. Munnich, F. Denoyelle, D. Lacombe, 2016, Human mutation.

Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1.

C. Goizet, J. Chateil, C. Delleci, 2019, European journal of medical genetics.

Bardet-Biedl Syndrome and Brain Abnormalities

A. Verloes, C. Rooryck, D. Lacombe, 2007, Neuropediatrics.

T. Barnetche, C. Cazeneuve, C. Goizet, 2021, Amyotrophic lateral sclerosis & frontotemporal degeneration.

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP

M. Ruberg, A. Durr, S. Forlani, 2007, Neurogenetics.

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

P. Svenningsson, A. Durr, A. Brice, 2021, Neurogenetics.

Evidence of mosaicism in SPAST variant carriers in four French families

C. Depienne, G. Stevanin, P. Pennamen, 2021, European Journal of Human Genetics.

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

M. Ruberg, A. Dürr, P. Ribai, 2006, Neurology.

Adaptative capacity of mitochondrial biogenesis and of mitochondrial dynamics in response to pathogenic respiratory chain dysfunction.

P. Berger, D. Lacombe, C. Rocher, 2013, Antioxidants & redox signaling.

Adult onset tubulo‐interstitial nephropathy in MT‐ND5‐related phenotypes

M. Martin-Négrier, D. Lacombe, C. Combe, 2019, Clinical genetics.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

B. O’Roak, A. Munnich, G. Jondeau, 2020, Journal of Medical Genetics.

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation

A. Durr, A. Brice, G. Stevanin, 2016, Human molecular genetics.

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

A. Durr, D. Hannequin, P. Ribai, 2011, Movement disorders : official journal of the Movement Disorder Society.

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia

C. Goizet, C. Durand, C. Delleci, 2022, BMC Neurology.

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

M. Koenig, F. Rivier, M. Cossée, 2018, The Journal of molecular diagnostics : JMD.

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56

A. Durr, F. Rivier, G. Stevanin, 2018, Human mutation.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule

P. Calvas, C. Moutou, C. Goizet, 2020, Scientific Reports.

[Significance of the urine strip test in case of stunted growth].

G. Choukroun, C. Goizet, A. Servais, 2015, Archives de pédiatrie.

Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.

Alexandra Durr, Cécile Cazeneuve, David Devos, 2012, Archives of neurology.

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.

M. Ruberg, A. Durr, D. Hannequin, 2008, Brain : a journal of neurology.

Updating the classification of inherited neuropathies

J. Vallat, C. Goizet, L. Magy, 2018, Neurology.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

A. Vanderver, I. Thiffault, B. Brais, 2023, Journal of Medical Genetics.

The value of electrocardiography and echocardiography in distinguishing Fabry disease from sarcomeric hypertrophic cardiomyopathy.

C. Goizet, P. Charron, P. Réant, 2020, Archives of cardiovascular diseases.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Delayed‐onset Friedreich's ataxia revisited

M. Koenig, W. Meissner, A. Eusebio, 2016, Movement disorders : official journal of the Movement Disorder Society.

Severe Charcot‐Marie‐Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation

C. Goizet, X. Ferrer, A. Vital, 2013, Journal of the peripheral nervous system : JPNS.

Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56

A. Durr, C. Orssaud, G. Stevanin, 2020, Journal of internal medicine.

[Cystinosis in adults: A systemic disease].

G. Choukroun, C. Goizet, A. Servais, 2015, Nephrologie & therapeutique.

Clinical and Radiological Characteristics in Multiple Sclerosis Patients with Large Cavitary Lesions

S. Vukusic, B. Brochet, G. Edan, 2012, European Neurology.

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

Emmanuel Dupoux, R. de Diego-Balaguer, A. Durr, 2016, PloS one.

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule

R. Favre, P. Calvas, C. Moutou, 2020, Scientific Reports.

Capacity building in clinical and molecular characterization of rare neurodegenerative diseases through the development of a local register and improved use of bioinformatics data analysis in Martinique

Y. Duffourd, C. Goizet, J. Inamo, 2020 .

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

P. Fergelot, A. Mégarbané, N. Chassaing, 2016, Journal of Human Genetics.

Homozygosity for dominant mutations increases severity of muscle channelopathies

B. Eymard, B. Fontaine, C. Goizet, 2010, Muscle & nerve.

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification

G. Labesse, M. Sitbon, D. Maltête, 2019, Scientific Reports.

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA

J. Pedespan, C. Goizet, M. Thibaud, 2020, Neuropediatrics.

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.

P. Fergelot, P. Brugières, D. Lacombe, 2014, Parkinsonism & Related Disorders.

Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study

M. Martin-Négrier, C. Combe, C. Goizet, 2022, Clinical kidney journal.

C08 Caffeine is a modifier of age at onset in Huntington's disease

L. Defebvre, L. Buée, P. Amouyel, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

A. Toutain, P. Calvas, B. Gilbert-Dussardier, 2019, Journal of the Neurological Sciences.

Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin &agr;IIb&bgr;3 Activation

P. Fergelot, M. Bryckaert, P. Nurden, 2017, Arteriosclerosis, thrombosis, and vascular biology.

Reasons Charcot–Marie–Tooth disease due to mutations in the MME gene should not be named AR‐CMT2T

J. Vallat, C. Goizet, L. Magy, 2016, Annals of neurology.

Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene

C. Goizet, X. Ferrer, A. Vital, 2005, Neuromuscular Disorders.

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

J. Toutain, C. Rooryck, D. Lacombe, 2012, European journal of medical genetics.

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

D. Timmann, A. Durr, L. Schöls, 2023, American journal of human genetics.

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

P. Jouk, D. Lacombe, C. Goizet, 2019, European journal of medical genetics.

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

Emmanuel Dupoux, R. de Diego-Balaguer, A. Durr, 2016, PloS one.

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes

P. Fergelot, G. Stevanin, B. Desnous, 2023, Movement disorders : official journal of the Movement Disorder Society.

White matter abnormalities in 15 subjects with SPG76.

G. Vasco, B. Brais, G. Stevanin, 2023, Journal of Neurology.

A Reliable Targeted Next-Generation 75 76 Sequencing Strategy for Diagnosis of Myopathies

M. Koenig, F. Rivier, M. Cossée, 2018 .

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

J. Toutain, C. Rooryck, D. Lacombe, 2012, European journal of medical genetics.

The burden of Huntington's disease: A prospective longitudinal study of patient/caregiver pairs.

Henri Vandendriessche, A. Bachoud-Lévi, E. Audureau, 2022, Parkinsonism & related disorders.