G. Stevanin

S. Klebe, A. Durr, S. Hanein, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Familial cortical myoclonic tremor with epilepsy

M. Vidailhet, C. Depienne, G. Stevanin, 2010, Neurology.

The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice

M. Priault, M. Ruberg, A. Durr, 2014, Acta Neuropathologica.

No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24

K. Lindblad, A. Brice, G. Stevanin, 2000, Neuroscience Letters.

Survival and severity in dominant cerebellar ataxias

S. Tezenas du Montcel, A. Durr, S. Forlani, 2015, Annals of clinical and translational neurology.

Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay.

A. Durr, A. Brice, G. Stevanin, 2006, The Journal of molecular diagnostics : JMD.

Consultations in Molecular Diagnostics Large Pathogenic Expansions in the SCA2 and SCA7 Genes Can Be Detected by Fluorescent Repeat-Primed Polymerase Chain Reaction Assay

A. Durr, A. Brice, G. Stevanin, 2006 .

Linkage disequilibrium at the SCA2 locus

T. Klockgether, A. Dürr, A. Brice, 1999, Journal of medical genetics.

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity.

Y. Agid, A. Dürr, A. Brice, 1993, Brain : a journal of neurology.

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.

Í. Lopes-Cendes, S. Tsuji, A. Brice, 2001, American journal of human genetics.

The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.

J. Weissenbach, H. Cann, Y. Agid, 1995, American journal of human genetics.

The gene for Machado–Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q

J. Weissenbach, Y. Agid, A. Dürr, 1994, Neurobiology of Disease.

The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of ∼3 cM on chromosome 14q24.3-q32.2

J. Weissenbach, H. Cann, Y. Agid, 1995 .

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus.

Y. Agid, A. Durr, A. Dürr, 1993, Human molecular genetics.

SCA3, Machado–Joseph Disease

A. Durr, A. Brice, G. Stevanin, 2010 .

French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis.

M. McPeek, N. Arnheim, A. Dürr, 1999, Human molecular genetics.

MID1, mutated in Opitz syndrome, encodes a ubiquitin ligase that targets phosphatase 2A for degradation

A. Brice, G. Stevanin, C. Callahan, 2002, Nature Genetics.

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

M. Ruberg, A. Durr, N. Elleuch, 2007, Nature Genetics.

Is DRPLA also linked to 14q?

Y. Agid, C. Duyckaerts, A. Dürr, 1994, Nature Genetics.

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

C. Duyckaerts, A. Brice, G. Stevanin, 2018, Acta Neuropathologica Communications.

SPG11 spastic paraplegia

A. Durr, M. Koenig, A. Brice, 2009, Journal of Neurology.

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

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

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

F. Lamari, A. Brice, G. Stevanin, 2021, Frontiers in Neurology.

Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes

M. Ruberg, C. Depienne, C. Charon, 2008, Neurogenetics.

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

G. Gyapay, S. Klebe, A. Durr, 2012, European Journal of Human Genetics.

Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis

A. Brice, G. Stevanin, F. Darios, 2019, Communications Biology.

Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis

A. Brice, G. Stevanin, F. Darios, 2019, Communications Biology.

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

A. Brice, G. Stevanin, F. Santorelli, 2017, Neurobiology of 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.

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.

S. Tsuji, V. Wong, A. Dürr, 2007, Archives of neurology.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.

Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases

G. Stevanin, F. Darios, 2020, Journal of molecular biology.

Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease

Victor R. Martinez, C. Blackstone, M. Stamelou, 2021, Movement disorders : official journal of the Movement Disorder Society.

Hereditary ataxias and paraparesias: clinical and genetic update

A. Durr, A. Brice, G. Stevanin, 2018, Current opinion in neurology.

Molecular Genetics of Hereditary Spastic Paraplegias

G. Stevanin, 2010, eLS.

A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene

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

Spastic Paraplegia 11

G. Stevanin, 2013, Definitions.

Spastic Paraplegia and Retinal Degeneration: Kjellin Syndrome

G. Stevanin, J. J. Laey, B. Puech, 2014 .

Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.

P. Vermersch, C. Depienne, G. Stevanin, 2011, Ophthalmology.

Screening of ARHSP‐TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

E. Bertini, M. Tosetti, G. Cioni, 2009, Human mutation.

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population

A. Brice, G. Stevanin, A. Federico, 2009, Journal of the Neurological Sciences.

Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.

N. Elleuch, A. Brice, G. Stevanin, 2008, Archives of neurology.

Spastic paraplegia 15: Linkage and clinical description of three Tunisian families

A. Brice, G. Stevanin, A. Boukhris, 2008, Movement disorders : official journal of the Movement Disorder Society.

Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins

M. Ruberg, A. Brice, G. Stevanin, 2016, Molecular Neurodegeneration.

Absence of the amyloid precursor protein gene mutation (APP717: Val->Ile) in 85 cases of early onset Alzheimer's disease.

Y. Agid, B. Dubois, J. Mallet, 1993, Journal of neurology, neurosurgery, and psychiatry.

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala.

S. Tsuji, V. Wong, G. Stevanin, 2012, Archives of neurology.

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

A. Durr, A. Brice, G. Stevanin, 2016, European Journal of Human Genetics.

Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype

C. Ross, G. Stevanin, R. Margolis, 2015, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia

A. Durr, G. Stevanin, H. Houlden, 2010, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

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

E. Bertini, M. Tosetti, A. Durr, 2006, Neurogenetics.

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

S. Klebe, R. Schüle, L. Schöls, 2015, Orphanet Journal of Rare Diseases.

Hereditary spastic paraplegia: More than an upper motor neuron disease.

A. Durr, G. Stevanin, S. Fenu, 2017, Revue neurologique.

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

A. Brice, G. Stevanin, A. Malandrini, 2016, Brain : a journal of neurology.

Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish

S. Rivaud-Pechoux, A. Brice, G. Stevanin, 2012, Neurobiology of Disease.

SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation

N. Bresolin, G. Comi, S. Corti, 2007, Neurogenetics.

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

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

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

S. Klebe, A. Durr, N. Elleuch, 2006, Archives of neurology.

SYNE1 mutations in autosomal recessive cerebellar ataxia.

A. Durr, J. Bouchard, S. Forlani, 2013, JAMA neurology.

Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

A. Durr, A. Brice, G. Stevanin, 2015, neurogenetics.

The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

A. Durr, A. Brice, G. Stevanin, 2013, neurogenetics.

Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases

A. Durr, A. Brice, G. Stevanin, 2013, Journal of Neurology.

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

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

Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation

M. Koenig, G. Stevanin, H. Hassan, 2014, British Journal of Ophthalmology.

SPG11 – the most common type of recessive spastic paraplegia in Norway?

A. Brice, G. Stevanin, P. Denora, 2008, Acta neurologica Scandinavica. Supplementum.

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25

P. Lockhart, A. Durr, E. Storey, 2022, Annals of neurology.

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.

L. Schöls, C. Rivolta, O. Poirot, 2013, Human molecular genetics.

SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene

A. Durr, A. Brice, G. Stevanin, 2012, Acta neurologica Scandinavica.

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

A. Brice, G. Stevanin, C. Callahan, 2002, Nature Genetics.

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

L. Servais, G. Stevanin, O. Boespflug-Tanguy, 2014, Orphanet Journal of Rare Diseases.

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans.

A. Singleton, M. Baudry, A. Durr, 2016, Cell reports.

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

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

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.

Heterozygous OPA1 mutations in Behr syndrome.

A. Durr, A. Brice, G. Stevanin, 2011, Brain : a journal of neurology.

G. Stevanin, S. Mercier, Y. Péréon, 2020, Movement disorders : official journal of the Movement Disorder Society.

Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS

M. Amador, G. Stevanin, J. Antoine, 2019, Neurology: Genetics.

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.

Janel O. Johnson, D. Hernandez, A. Singleton, 2011, Archives of neurology.

Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview

G. Stevanin, L. Elsayed, A. Ahmed, 2021, Frontiers in Molecular Biosciences.

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

Alexandra Durr, Chokri Mhiri, Stephan Züchner, 2013, American journal of human genetics.

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.

J. Kulisevsky, A. Durr, A. Navarro, 2013, JAMA neurology.

Saccade velocity in idiopathic and autosomal dominant cerebellar ataxia.

M. Skalej, J. Dichgans, T. Klockgether, 1997, Journal of neurology, neurosurgery, and psychiatry.

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

A. Shevchenko, A. Durr, I. Poser, 2010, PLoS biology.

New mutations in protein kinase Cγ associated with spinocerebellar ataxia type 14

Y. Agid, S. Klebe, A. Durr, 2005, Annals of neurology.

Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families

M. Dichgans, T. Klockgether, G. Stevanin, 1999, Neurology.

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

S. Gustincich, A. Durr, S. Forlani, 2013, BMC Medical Genomics.

Mutations in KCND3 cause spinocerebellar ataxia type 22

P. Tsai, Jun Z. Li, Yi-Chung Lee, 2012, Annals of neurology.

Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis

A. Brice, G. Stevanin, F. Darios, 2019, Communications Biology.

A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.

Christopher D. Brown, K. White, S. Pulst, 2012, Human molecular genetics.

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

Yves Agid, Jean-Louis Mandel, Gaël Yvert, 1996, Nature Genetics.

ATXN2 trinucleotide repeat length correlates with risk of ALS

Ashley R. Jones, J. Hardy, Yi-Chung Lee, 2017, Neurobiology of Aging.

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

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

Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.

S. Klebe, C. Depienne, G. Stevanin, 2015, Revue neurologique.

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

Janel O. Johnson, K. Fischbeck, C. Blackstone, 2015, JAMA neurology.

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

G. Stevanin, J. Koht, C. Tesson, 2015, Human Genetics.

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.

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

S. Klebe, P. Bastien, A. Durr, 2006, Brain : a journal of neurology.

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

S. Klebe, M. Ruberg, A. Durr, 2005, Annals of neurology.

Update on the Genetics of Spastic Paraplegias

G. Stevanin, Maxime Boutry, Sara Morais, 2019, Current Neurology and Neuroscience Reports.

Recent advances in the genetics of spastic paraplegias

M. Ruberg, A. Brice, G. Stevanin, 2008, Current neurology and neuroscience reports.

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

M. Ruberg, A. Durr, A. Dürr, 1998, Human molecular genetics.

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

A. Brice, G. Stevanin, J. Gomori, 2015, Neurology.

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report

G. Stevanin, Z. Chen, H. Chan, 2021, BMC Neurology.

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

A. Durr, A. Brice, G. Stevanin, 2013, Journal of Medical Genetics.

Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.

G. Stevanin, M. Barbosa, P. Coutinho, 2013, JAMA 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.

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes

S. Klebe, P. Bauer, R. Schüle, 2012, neurogenetics.

Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

S. Pulst, D. Rubinsztein, B. Underwood, 2013, The Cerebellum.

Spinocerebellar ataxia 17 (SCA17) and Huntington’s disease-like 4 (HDL4)

A. Brice, G. Stevanin, 2008, The Cerebellum.

Chapter 4 Clinical and Genetic Aspects of Spinocerebellar Ataxias with Emphasis on Polyglutamine Expansions

A. Durr, A. Brice, G. Stevanin, 2007 .

Spinocerebellar ataxia type 10 in the French population

T. Ashizawa, A. Dürr, A. Brice, 2002, Annals of neurology.

Familial Herpes Simplex Encephalitis

T. Ashizawa, A. Dürr, A. Brice, 2002 .

Spinocerebellar ataxias caused by polyglutamine expansions.

A. Dürr, A. Brice, G. Stevanin, 2002, Advances in experimental medicine and biology.

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

Y. Agid, M. Ruberg, G. Yvert, 1997, Nature Genetics.

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

Y. Agid, A. Brice, G. Stevanin, 1995, Nature.

Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins

M. Ruberg, A. Brice, G. Stevanin, 2016, Molecular Neurodegeneration.

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

S. Klebe, A. Durr, S. Hanein, 2007, Human Genetics.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

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

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

Spinocerebellar ataxia 3 and machado‐joseph disease: Clinical, molecular, and neuropathological features

Alexandra Durr, Charles Duyckaerts, Yves Agid, 1996, Annals of neurology.

Lipids in the Physiopathology of Hereditary Spastic Paraplegias

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

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

S. Pulst, D. Timmann, S. Tezenas du Montcel, 2014, Brain : a journal of neurology.

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.

Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing

G. Stevanin, M. Salih, S. Masmoudi, 2022, Annals of human genetics.

The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives

G. Stevanin, Ashraf Yahia, 2021, Frontiers in Genetics.

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

A. Durr, A. Brice, G. Stevanin, 2015, Neurology.

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

A. Brice, G. Stevanin, M. Ibrahim, 2018, BMC Medical Genetics.

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.

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum

D. Zélénika, N. Elleuch, A. Brice, 2010, neurogenetics.

Hereditary spastic paraplegias: an update

A. Durr, C. Depienne, A. Brice, 2007, Current opinion in neurology.

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

S. Klebe, D. Zélénika, A. Durr, 2007, Neurogenetics.

Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing

A. Brice, G. Stevanin, M. Coutelier, 2015, Journal of Neurology.

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.

D. Grabli, A. Durr, A. Brice, 2016, JAMA neurology.

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

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

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1

J. Weber, J. Beckmann, M. Farrall, 1993, Nature Genetics.

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p

A. Dürr, A. Brice, G. Stevanin, 2004, Annals of neurology.

Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1

H. Cann, Y. Agid, A. Durr, 1993, Neurology.

An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families

H. Lerche, G. Stevanin, P. Nürnberg, 2021, Annals of human genetics.

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.

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

J. Finsterer, G. Stevanin, W. Löscher, 2012, Journal of Neurological Sciences.

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

Y. Agid, A. Brice, G. Stevanin, 1992, Journal of medical genetics.

Duplication within chromosome 17 p 11 . 2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type la

Y. Agid, A. Brice, G. Stevanin, 2022 .

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

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

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

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

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination

D. Boichard, A. Brice, G. Stevanin, 2018, PLoS genetics.

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

A. Durr, P. Ribai, I. Nelson, 2006, Journal of Neurology.

Spinocerebellar ataxia type 7 (SCA7)

M. Ruberg, C. Duyckaerts, A. Durr, 2020, Analysis of Triplet Repeat Disorders.

Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.

J. Weissenbach, Y. Agid, R. Sherrington, 1996, Human molecular genetics.

Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations

Y. Agid, A. Durr, A. Dürr, 1995, Annals of neurology.

PNPLA 6 seed analysis in more than 500 exomes of index patients with ataxia , hereditary spastic paraplegia and Charcot – Marie – Tooth disease

T. Strom, S. Züchner, H. Prokisch, 2014 .

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

Y. Agid, A. Dürr, A. Brice, 1998, Human molecular genetics.

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1–14.1

C. Broeckhoven, A. Dürr, A. Brice, 1997, Human Genetics.

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

J. Weissenbach, Y. Agid, C. Broeckhoven, 1995, Nature Genetics.

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.

T. Strom, S. Züchner, H. Prokisch, 2014, Brain : a journal of neurology.

Requirement for Zebrafish Ataxin-7 in Differentiation of Photoreceptors and Cerebellar Neurons

A. Brice, G. Stevanin, M. Hibi, 2012, PloS one.

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.

C. Duyckaerts, A. Durr, A. Brice, 2015, American journal of human genetics.

A QTL for flowering time in Arabidopsis reveals a novel allele of CRY2

A. Brice, G. Stevanin, A Brice, 2002, Nature Genetics.

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

Dagmar Nolte, Ulrich Müller, S. Pulst, 2006, Nature Genetics.

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families.

A Dürr, Y. Agid, A. Durr, 1995, Brain : a journal of neurology.

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

A. Dürr, P. Ribai, S. Forlani, 2010, Human mutation.

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.

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.

H. Zoghbi, S. Tsuji, A. Durr, 1998, American journal of human genetics.

ELOVL5 mutations cause spinocerebellar ataxia 38.

F. Tempia, A. Durr, M. Papotti, 2014, American journal of human genetics.

REPORT ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

F. Tempia, A. Durr, M. Papotti, 2014 .

PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases

C. Duyckaerts, J. Hauw, A. Dürr, 2003, Neurobiology of Disease.

Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content.

C. Duyckaerts, J. Hauw, G. Yvert, 2002, Brain : a journal of neurology.

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

Janel O. Johnson, K. Fischbeck, C. Blackstone, 2013, Human mutation.

A preliminary study on early onset schizophrenia and bipolar disorder: large polyglutamine expansions are not involved

M. Leboyer, F. Bellivier, A. Brice, 1997, Psychiatry Research.

Mutation Detection in Machado-Joseph Disease Using Repeat Expansion Detection

K. Lindblad, T. Klockgether, A. Brice, 1996, Molecular Medicine.

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.

A. Durr, A. Brice, G. Stevanin, 2003, Brain : a journal of neurology.

A 7.5‐Mb duplication at chromosome 11q21‐11q22.3 is associated with a novel spastic ataxia syndrome

Janel O. Johnson, D. Hernandez, A. Singleton, 2015, Movement disorders : official journal of the Movement Disorder Society.

Predominant dystonia with marked cerebellar atrophy

P. Pollak, A. Durr, A. Dürr, 2006, Neurology.

Are (CTG)n expansions at the SCA8 locus rare polymorphisms?

Y. Agid, A. Dürr, A. Brice, 2000, Nature Genetics.

Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions

B. Merriman, G. Stevanin, M. Gribaa, 2014, The Journal of investigative dermatology.

LINGO1 polymorphisms are associated with essential tremor in Europeans

G. Deuschl, S. Klebe, D. Lorenz, 2010, Movement disorders : official journal of the Movement Disorder Society.

Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients

G. Deuschl, S. Klebe, D. Lorenz, 2009, European Journal of Human Genetics.

Familial essential tremor and idiopathic torsion dystonia are different genetic entities

A. Dürr, A. Brice, G. Stevanin, 1993, Neurology.

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

A. Dürr, A. Brice, G. Stevanin, 2000, European Journal of Human Genetics.

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

M. Ruberg, M. Welter, A. Durr, 2004, Archives of neurology.

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.

A Conditional Pan-Neuronal Drosophila Model of Spinocerebellar Ataxia 7 with a Reversible Adult Phenotype Suitable for Identifying Modifier Genes

M. Ruberg, A. Brice, G. Stevanin, 2007, The Journal of Neuroscience.

Spinocerebellar Ataxia 17 and Huntington's Disease-like 4

A. Brice, G. Stevanin, 2006 .

Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.

H. Cann, Y. Agid, C. Duyckaerts, 1995, American journal of human genetics.

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation.

O. Rascol, A. Dürr, A. Brice, 2000, American journal of human genetics.

Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado‐Joseph disease

E. Hirsch, Y. Agid, A. Brice, 1998, Human mutation.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Autosomal‐dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I

Y. Agid, A. Dürr, A. Brice, 1994, Annals of neurology.

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion

A. Vighetto, H. Wichmann, C. Duyckaerts, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.

A. Durr, C. Depienne, A. Brice, 2022, Genetics in medicine : official journal of the American College of Medical 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.

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2

C. Ross, A. Brice, G. Stevanin, 2001, Nature Genetics.

CAG/CTG repeat expansions at the Huntington’s disease–like 2 locus are rare in Huntington’s disease patients

C. Ross, A. Durr, A. Brice, 2002, Neurology.

Implication of folate deficiency in CYP2U1 loss of function

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

Exome Sequencing Revealed Mutations in ADAT3 and HERC2 Genes in two Sudanese Families with Syndromic Mental Retardation

G. Stevanin, L. Elsayed, A. Hamed, 2020 .

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

Robert W. Taylor, G. Stevanin, P. Bonnen, 2016, Annals of clinical and translational neurology.

Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians

M. Vidailhet, A. Vighetto, T. Illig, 2011, Neurology.

ARCHIVES OF NEUROLOGY

K. Tyler, M. Ruberg, M. Welter, 2015 .

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

F. Tempia, A. Durr, S. Forlani, 2013, Journal of Medical Genetics.

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

M. Ruberg, A. Durr, S. Forlani, 2006, Journal of Medical Genetics.

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

M. Ruberg, D. Hannequin, A. Dürr, 2004, Archives of neurology.

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.

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)

S. Klebe, A. Durr, P. Bauer, 2010, European Journal of Human Genetics.

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

S. Klebe, P. Vermersch, A. Durr, 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.

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia

A. Durr, R. Schüle, L. Schöls, 2018, Brain : a journal of neurology.

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.

G. Stevanin, A. Bakhiet, M. Ibrahim, 2023, European journal of human genetics : EJHG.

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

V. Meininger, F. Salachas, M. Amador, 2017, Neurobiology of Aging.

Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.

D. Timmann, S. Züchner, A. Durr, 2021, Brain : a journal of neurology.

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report

A. Brice, G. Stevanin, M. Salih, 2018, BMC Neurology.

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.

A. Brice, G. Stevanin, N. Wood, 1999, American journal of human genetics.

C. Duyckaerts, A. Brice, G. Stevanin, 2001, Human molecular genetics.

The (−16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients

A. Durr, A. Brice, G. Stevanin, 2007, Movement disorders : official journal of the Movement Disorder Society.

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.

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

A. Singleton, B. Wirth, A. Durr, 2018, Neurology: Genetics.

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

S. Kushner, H. Mandel, M. Vernooij, 2018, Neurology: Genetics.

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss

R. Carrozzo, G. Stevanin, G. Grieco, 2009, neurogenetics.

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

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

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.

Y. Agid, A. Durr, T. Klockgether, 1996, Human molecular genetics.

Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity

M. Ruberg, A. Brice, G. Stevanin, 2006, Molecular and Cellular Neuroscience.

Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus

M. Skalej, J. Dichgans, T. Klockgether, 1997, Journal of Neurology.

Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1linked to the SCA2 locus

Y. Agid, G. Stevanin, M. Hamida, 1994, Neurology.

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

C. Duyckaerts, A. Brice, G. Stevanin, 2018, Acta neuropathologica communications.

Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch–French cohort

H. Hendriks, R. Sinke, A. Dürr, 2005, Annals of neurology.

Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan

A. Brice, G. Stevanin, S. Illarioshkin, 2000, Movement disorders : official journal of the Movement Disorder Society.

Gender equality in Machado–Joseph disease

Y. Agid, A. Dürr, A. Brice, 1995, Nature Genetics.

Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

I. Katona, M. Koenig, R. Rodenburg, 2013, PLoS ONE.

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.

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.

C. van Broeckhoven, A. Dürr, A. Brice, 2001, Brain : a journal of neurology.

Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56

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

Differential distribution of the normal and mutated forms of huntingtin in the human brain

Yves Agid, Laszlo Tora, E. Hirsch, 1997, Annals of neurology.

LRRK2 G2019S Parkinson's disease with more benign phenotype than idiopathic

A. Brice, G. Stevanin, S. Lesage, 2018, Acta neurologica Scandinavica.

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes

S. Klebe, P. Bauer, R. Schüle, 2012, neurogenetics.

Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies

G. Stevanin, L. Elsayed, A. Ahmed, 2019, Expert review of neurotherapeutics.

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.

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease

Y. Agid, A. Dürr, A. Brice, 1995, Journal of medical genetics.

Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality

A. Dürr, C. Depienne, A. Brice, 2013, European journal of neurology.

Identification of a de novo mutation in SPG11

G. Stevanin, F. Santorelli, J. Truchetto, 2010, Movement disorders : official journal of the Movement Disorder Society.

Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

A. Durr, A. Brice, G. Stevanin, 2015, neurogenetics.

The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

A. Durr, A. Brice, G. Stevanin, 2013, neurogenetics.

Refinement of the SPG9 locus on chromosome 10q23.3‐24.2 and exclusion of candidate genes

R. Ravazzolo, G. Rouleau, G. Stevanin, 2008, European journal of neurology.

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21

J. Weissenbach, J. Prud'homme, A. Dürr, 2007, Neurology.

Neurogenetic Disorders in Africa: Hereditary Spastic Paraplegia

G. Stevanin, L. Elsayed, A. Ahmed, 2019 .

New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

I. Katona, M. Koenig, R. Rodenburg, 2013, PloS one.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

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.

Spinocerebellar Ataxia 7

G. Stevanin, X. Zanlonghi, B. Puech, 2014 .

ICIEM 2013 12th International Congress of Inborn Errors of Metabolism

A. Durr, F. Lamari, G. Stevanin, 2013, Journal of Inherited Metabolic Disease.

Pantothenate kinase–associated neurodegeneration: Clinical description of 10 patients and identification of new mutations

A. Brice, G. Stevanin, D. Grid, 2011, Movement disorders : official journal of the Movement Disorder Society.

A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.

Christopher D. Brown, K. White, S. Pulst, 2012, Human molecular genetics.

PLEKHG 5 deficiency leads to an intermediate form of autosomal-recessive Charcot – Marie – Tooth disease

L. Schöls, C. Rivolta, O. Poirot, 2013 .

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.

Janel O. Johnson, D. Hernandez, A. Singleton, 2011, Archives of neurology.

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

A. Dürr, P. Ribai, S. Forlani, 2010, Human mutation.

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

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

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.

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

V. Meininger, F. Salachas, M. Amador, 2017, Neurobiology of Aging.

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

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

The impact of rare variants in FUS in essential tremor

G. Deuschl, S. Klebe, D. Lorenz, 2015, Movement disorders : official journal of the Movement Disorder Society.

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

A. Durr, C. Depienne, A. Brice, 2014, American journal of human genetics.

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

S. Züchner, A. Durr, R. Schüle, 2013, American journal of human genetics.

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.

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia

C. Duyckaerts, A. Brice, G. Stevanin, 2011, Molecular and Cellular Neuroscience.

Heterozygous OPA1 mutations in Behr syndrome.

A. Durr, A. Brice, G. Stevanin, 2011, Brain : a journal of neurology.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.