A Brice

Summary

Country: France

Publications

  1. ncbi Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3
    Stephan Klebe
    INSERM U679, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Brain 129:1456-62. 2006
  2. ncbi Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families
    H Rouger
    INSERM U289, Paris, France
    Hum Mutat 10:443-52. 1997
  3. ncbi Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness
    O Dubourg
    Service d explorations fonctionnelles neurologiques, Hopital de la Salpetriere, Paris, France
    Muscle Nerve 23:1508-14. 2000
  4. ncbi Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease
    O Dubourg
    INSERM U289, Hopital de la Salpetriere, Paris, France
    Brain 124:1958-67. 2001
  5. ncbi Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene
    H Azzedine
    INSERM U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651 Paris 13, France
    Neuromuscul Disord 13:341-6. 2003
  6. ncbi Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes
    Giovanni Stevanin
    INSERM U289, Hopital de la Salpetriere, 47 bd de l Hopital, 75013 Paris, France
    Brain 126:1599-603. 2003
  7. ncbi Genetics of Parkinson's disease: LRRK2 on the rise
    Alexis Brice
    INSERM U679, Groupe Hospitalier Pitie Salpetriere, AP HP, 47 Boulevard de l Hopital, 75013, Paris, France
    Brain 128:2760-2. 2005
  8. ncbi How much does dardarin contribute to Parkinson's disease?
    Alexis Brice
    INSERM U 679, Groupe Hospitalier Pitie Salpetriere, 75651 Paris Cedex 13, France
    Lancet 365:363-4. 2005
  9. ncbi Spinocerebellar ataxia 7 (SCA7)
    A S Lebre
    INSERM U289, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Cytogenet Genome Res 100:154-63. 2003
  10. ncbi Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)
    Naima Bouslam
    INSERM U679 former U289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Ann Neurol 57:567-71. 2005

Research Grants

Detail Information

Publications160 found, 100 shown here

  1. ncbi Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3
    Stephan Klebe
    INSERM U679, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Brain 129:1456-62. 2006
    ..The phenotype of the linked family consists of spastic paraparesis and peripheral neuropathy associated with slight cerebellar signs confirmed by cerebellar atrophy on one CT scan...
  2. ncbi Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families
    H Rouger
    INSERM U289, Paris, France
    Hum Mutat 10:443-52. 1997
    ..These results demonstrate the high frequency (40%) of mutations in the coding region of the Cx32 gene in CMT patients with intermediate MNCV, without 17p11.2 duplications. Most of these mutations (93%) can be detected by SSCP...
  3. ncbi Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness
    O Dubourg
    Service d explorations fonctionnelles neurologiques, Hopital de la Salpetriere, Paris, France
    Muscle Nerve 23:1508-14. 2000
    ..Results of linkage analysis excluded the Charcot-Marie-Tooth 2A (CMT2A) and CMT2B loci and suggested the possibility of a linkage to HSAN-I locus on 9q22.1-q22.3...
  4. ncbi Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease
    O Dubourg
    INSERM U289, Hopital de la Salpetriere, Paris, France
    Brain 124:1958-67. 2001
    ..CMTX patients with age at onset in the first decade mostly presented non-functional mutations, suggesting that the physiological consequences of the mutations affect age at onset in CMTX...
  5. ncbi Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene
    H Azzedine
    INSERM U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651 Paris 13, France
    Neuromuscul Disord 13:341-6. 2003
    ..The phenotype included hoarse voice and paralysis of the diaphragm. This study shows the variability of the phenotype associated with mutations in GDAP1 gene in terms of associated signs and severity...
  6. ncbi Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes
    Giovanni Stevanin
    INSERM U289, Hopital de la Salpetriere, 47 bd de l Hopital, 75013 Paris, France
    Brain 126:1599-603. 2003
    ..Expansions in the DRPLA gene and insertions in the PRNP gene were not found in our group of patients. Further genetic heterogeneity of the HDL phenotype therefore exists...
  7. ncbi Genetics of Parkinson's disease: LRRK2 on the rise
    Alexis Brice
    INSERM U679, Groupe Hospitalier Pitie Salpetriere, AP HP, 47 Boulevard de l Hopital, 75013, Paris, France
    Brain 128:2760-2. 2005
  8. ncbi How much does dardarin contribute to Parkinson's disease?
    Alexis Brice
    INSERM U 679, Groupe Hospitalier Pitie Salpetriere, 75651 Paris Cedex 13, France
    Lancet 365:363-4. 2005
  9. ncbi Spinocerebellar ataxia 7 (SCA7)
    A S Lebre
    INSERM U289, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Cytogenet Genome Res 100:154-63. 2003
    ..This can explain the persistence of the disease in spite of the anticipation that should have resulted in its extinction...
  10. ncbi Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)
    Naima Bouslam
    INSERM U679 former U289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Ann Neurol 57:567-71. 2005
    ..No mutations were found in exons of GCH1 and SPG3A, two genes from the candidate region involved in movement disorders...
  11. ncbi A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21
    G Stevanin
    INSERM U679, Federative Institute for Neuroscience Research IFR70, Pitie Salpetriere Hospital, Paris, France
    Neurology 68:1837-40. 2007
    ..We have mapped the disease locus SPG32 to chromosome 14q12-q21 within a 30-cM interval, which excludes the atlastin gene...
  12. pmc Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects
    M Periquet
    INSERM U289, Hopital de la Salpetriere, 75651 Paris, Cedex 13, France
    Am J Hum Genet 68:617-26. 2001
    ..Our results support the hypothesis that exon rearrangements occurred independently, whereas some point mutations, found in families from different geographic origins, may have been transmitted by a common founder...
  13. ncbi Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia
    I Le Ber
    INSERM U679, Département de génétique, cytogénétique et embryologie, France
    Neurology 67:1769-73. 2006
    ..Dystonia syndromes constitute a heterogeneous group of phenotypes that may be caused by different heredodegenerative, metabolic, or genetic diseases...
  14. pmc A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3
    A Bouhouche
    INSERM U 289, Federation de Neurologie, Hopital de la Salpetriere, Bâtiment Nouvelle Pharmacie, Paris, France
    Am J Hum Genet 65:722-7. 1999
    ..7 cM. In addition, the P0 gene, an attractive candidate because of both its location on chromosome 1q and its role in myelin structure, was excluded by physical mapping and direct sequencing...
  15. ncbi Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31
    S Baulac
    INSERM U289, Hĵpital de la Pitié Salpêtrière, Paris, France
    Ann Neurol 49:786-92. 2001
    ..This family suggests that the association between FC and TLE may be observed in the absence of hippocampal structural abnormalities and that they may have, in some cases, a common genetic basis...
  16. ncbi Association between early-onset Parkinson's disease and mutations in the parkin gene
    C B Lücking
    INSERM Unité 289, Hopital de la Salpetriere, Paris
    N Engl J Med 342:1560-7. 2000
    ..Mutations in the parkin gene have recently been identified in patients with early-onset Parkinson's disease, but the frequency of the mutations and the associated phenotype have not been assessed in a large series of patients...
  17. ncbi Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease
    P Ibanez
    INSERM U289, Neurologie et Thérapeutique Expérimentale, Hopital de la Pitie Salpetriere, AP HP, Paris, France
    Lancet 364:1169-71. 2004
    ..These results indicate that SNCA is more frequently associated with familial Parkinson's disease than previously thought, and that there is a clear dosage effect according to the number of supernumerary copies of this gene...
  18. pmc A multidisciplinary study of patients with early-onset PD with and without parkin mutations
    E Lohmann
    INSERM UMR S_679, Hopital Pitie Salpetriere, Paris, France
    Neurology 72:110-6. 2009
    ..To establish phenotype-genotype correlations in early-onset Parkinson disease (EOPD), we performed neurologic, neuropsychological, and psychiatric evaluations in a series of patients with and without parkin mutations...
  19. ncbi Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene
    I Gourfinkel-An
    Pôle d Epileptologie Clinique, Hopital de la Salpetriere, Paris Cedex 13, France
    Neurology 69:79-83. 2007
    ..The typical cerebral inclusions (Collins bodies) were abundant in the frontal cortex and in the head of the caudate nucleus but spared the cerebellum...
  20. ncbi Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
    H Azzedine
    INSERM U679 ex U289, Neurology and Experimental Therapeutics, La Pitie Salpetriere Hospital, Paris, France
    Neurology 67:602-6. 2006
    ..Recently, 11 mutations were identified in the SH3TC2 (KIAA1985) gene in 12 families with demyelinating ARCMT from Turkish, Iranian, Greek, Italian, or German origin...
  21. ncbi Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family
    C Verny
    INSERM U289, Hopital Pitie Salpetriere, 47 bd de l Hopital, 75651, Paris Cedex 13, France
    Neurology 63:1527-9. 2004
    ..One had related parents, and there were no other affected relatives, suggesting an autosomal recessive mode of inheritance. Molecular studies showed that a de novo duplication in 17p11.2 and a second mutation in MTMR2 were present...
  22. ncbi Distribution of ataxin-7 in normal human brain and retina
    G Cancel
    INSERM U289 and Laboratoire de Neuropathologie Escourolle, Hopital de la Salpetriere, Paris, France
    Brain 123:2519-30. 2000
    ..Double immunolabelling coupled with confocal microscopy showed that ataxin-7 colocalized with BiP, a marker of the endoplasmic reticulum, but not with markers of mitochondria or the trans-Golgi network...
  23. ncbi Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease
    P Ibanez
    INSERM U289, Neurologie et Thérapeutique Expérimentale, Hopital de la Salpetriere, Paris, France
    Neurology 62:2133-4. 2004
  24. ncbi Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1
    A Guilbot
    INSERM U289, Hopital de la Salpetriere, Paris
    Eur J Hum Genet 7:849-59. 1999
    ..The most obvious candidate gene, EGR1, expressed specifically in Schwann cells, mapped outside of the candidate region and no base changes were detected in two families by sequencing of the entire coding sequence...
  25. ncbi The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity
    O Dubourg
    INSERM U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651 Cedex 13, Paris, France
    Neuromuscul Disord 11:458-63. 2001
    ..This systematic approach was taken to estimate the frequency of 17p11.2 duplication and Cx32 mutations in the different Charcot-Marie-Tooth subgroups, in order to propose a practical strategy for molecular analysis...
  26. ncbi Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
    J Tassin
    INSERM U289, Hopital de la Salpetriere, Paris, France
    Brain 123:1112-21. 2000
    ..No mutations were identified in seven families. The clinical spectrum extended from the classical DRD phenotype to parkinsonism with levodopa-induced dyskinesias, and included spastic paraplegia as well as the absence of dystonia...
  27. ncbi Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population
    P Verpillat
    INSERM U535, Le Kremlin Bicetre, France, and INSERM U289, Paris, France
    Eur J Hum Genet 9:464-8. 2001
    ..One interest in this study is the use of the haplotype analysis, which can be used to combine information from several polymorphisms, taking into account their dependence...
  28. ncbi Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?
    P Charles
    AP HP, Groupe Hospitalier Pitie Salpetriere, Department of Genetics and Cytogenetics, Paris, France
    Neurology 69:1970-5. 2007
    ..It is also caused by mutations in genes associated with autosomal dominant cerebellar ataxia (ADCA), notably CAG/CAA repeat expansions in SCA2...
  29. ncbi Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism
    P Ibanez
    INSERM U289, Neurologie et Thérapeutique Expérimentale, Hopital de la Pitie Salpetriere, Paris, France
    Neurology 61:1429-31. 2003
    ..No mutations were found. This indicates that PARK7 is not a common locus for early onset autosomal recessive parkinsonism, and that one or more new loci remains to be identified...
  30. ncbi Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3
    C Zander
    INSERM U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651 Paris, Cedex 13, France
    Hum Mol Genet 10:2569-79. 2001
    ..Finally, on the ultrastructural level, there were signs of autophagy and nuclear indentations, indicative of a major stress response in cells expressing mutant ataxin-7...
  31. ncbi Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations
    C B Lücking
    INSERM U 289, Hopital de la Salpetriere, Paris, France
    Neurology 57:924-7. 2001
    ..Thus, pseudo-dominant inheritance of parkin gene mutations has to be considered in early-onset parkinsonism, and sensitive screening techniques, such as semiquantitative multiplex PCR, should be applied...
  32. ncbi SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years
    M Namekawa
    INSERM U679 former 289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Neurology 66:112-4. 2006
    ..8%). Later onset was not observed. The phenotype was pure HSP, but disease duration was longer than in non-SPG3A/SPG4 patients, leading ultimately to greater handicap...
  33. ncbi Gene symbol: SPAST. Disease: spastic paraparesis. Accession #Hs0515
    C Depienne
    INSERM U679, Hopital de la Salpetriere, 75013 Paris, France
    Hum Genet 118:785. 2006
  34. pmc A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
    B Fontaine
    INSERM CJF9711, Faculté de Médecine Pitié Salpêtrière, 105 Boulevard de l Hôpital, 75013 Paris, France
    Am J Hum Genet 66:702-7. 2000
    ....
  35. ncbi Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0557
    C Depienne
    INSERM U679, Hopital de la Salpetriere, 75013 Paris, France
    Hum Genet 118:783. 2006
  36. ncbi Nuclear inclusions in spinocerebellar ataxia type 1
    C Duyckaerts
    INSERM U 360, Association Claude Bernard, Hopital de la Salpetriere, Paris, France
    Acta Neuropathol 97:201-7. 1999
    ..They were faintly eosinophilic, Congo red negative and were not stained by thioflavin S or by ethidium bromide...
  37. ncbi Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0556
    C Depienne
    INSERM U679, Hopital de la Salpetriere, 75013 Paris, France
    Hum Genet 118:782. 2006
  38. ncbi Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0554
    C Depienne
    INSERM U679, Hopital de la Salpetriere, 75013 Paris, France
    Hum Genet 118:782. 2006
  39. ncbi Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0553
    C Depienne
    INSERM U679, Hopital de la Salpetriere, 75013 Paris, France
    Hum Genet 118:782. 2006
  40. ncbi Gene symbol: SPAST (SPG4). Disease: Spastic paraparesis. Accession #Hm0552
    C Depienne
    INSERM U679, Hopital de la Salpetriere, 75013 Paris, France
    Hum Genet 118:781. 2006
  41. ncbi Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease
    O Dubourg
    INSERM U679 ex U289, La Pitie Salpetriere Hospital, AP HP, Paris, France
    Neuromolecular Med 8:75-86. 2006
    ..In this review, we will focus on the particular clinical and/or neuropathological features of the phenotype caused by mutations in each of these genes, which might guide molecular diagnosis...
  42. ncbi Edg-2 in myelin-forming cells: isoforms, genomic mapping, and exclusion in Charcot-Marie-Tooth disease
    J Allard
    Unité de Neurobiologie et Pharmacologie Moléculaire, Centre Paul Broca, Paris, France
    Glia 26:176-85. 1999
    ..As a first application to molecular genetic studies, they were used to exclude the Edg-2 gene in six families with phenotype of demyelinating Charcot-Marie-Tooth disease of unknown origin...
  43. doi Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers
    M Anheim
    INSERM, U975, Paris, France
    Neurology 78:417-20. 2012
    ..Our objective was to estimate PD penetrance in a familial study of GBA mutation carriers...
  44. ncbi CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia
    H Fujigasaki
    INSERM U289, , Paris, France
    Brain 124:1939-47. 2001
    ..This study demonstrates that CAG/CAA repeat expansion in the TBP gene causes ADCA with dementia and/or psychiatric manifestations...
  45. doi Is the common LRRK2 G2019S mutation related to dyskinesias in North African Parkinson disease?
    S Lesage
    INSERM UMR 679 former U289, Hopital de la Salpetriere, Paris Cedex 13, France
    Neurology 71:1550-2. 2008
  46. ncbi The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V
    O Dubourg
    INSERM U679, Consultation Pluridisciplinaire des Neuropathies Héréditaires, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Neurology 66:1721-6. 2006
    ..Missense mutations in the glycyl-tRNA synthetase (GARS) gene have been recently reported in families with either dHMN-V, CMT2D, or both...
  47. ncbi Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0555
    C Depienne
    INSERM U679, Hopital de la Salpetriere, 75013 Paris, France
    Hum Genet 118:782. 2006
  48. ncbi Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hs0516
    C Depienne
    INSERM U679, Hopital de la Salpetriere, 75013 Paris, France
    Hum Genet 118:785. 2006
  49. ncbi New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism
    N Rawal
    INSERM U289, Hopital La Salpetriere, Paris, France
    Neurology 60:1378-81. 2003
    ..Two patients with parkin mutations had atypical clinical presentation at onset, with predominant tremor when standing...
  50. ncbi Ultrastructural localization of parkin in the rat brainstem, thalamus and basal ganglia
    A Mouatt-Prigent
    INSERM U 289 Neurology and Experimental Therapeutics, Hopital de la Salpetriere, Paris, France
    J Neural Transm 111:1209-18. 2004
    ..In HS22 cells over-expressing parkin, the distribution of the protein was similar to that observed in the perikarya of the labeled neurons...
  51. ncbi Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions
    A S Lebre
    INSERM U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651 Paris, Cedex 13, France
    Hum Mol Genet 10:1201-13. 2001
    ..We propose that this interaction is part of a physiological pathway related to the function or turnover of ataxin-7. Its role in the pathophysiological process of SCA7 disease is discussed...
  52. ncbi A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease
    A Guilbot
    INSERM U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, Paris, France
    Hum Mol Genet 10:415-21. 2001
    ..These data confirm the importance of the periaxin proteins to normal Schwann cell function and substantiate the utility of the periaxin-null mouse as a model of ARCMT disease...
  53. ncbi Recent advances in hereditary spastic paraplegia
    C M Tallaksen
    INSERM U289, , , , , Paris, France
    Curr Opin Neurol 14:457-63. 2001
    ..Surprisingly, the five genes encode proteins of different families, making understanding and diagnosis of HSP even more difficult. The discovery of new genes should hopefully help to clarify the pathophysiology of these disorders...
  54. ncbi A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q
    M Vidailhet
    INSERM U289, , Paris, France
    Neurology 56:1213-6. 2001
    ..5 to 38 years. Only four patients from two families had a positive response to alcohol. Lod scores were positive in all four families, suggesting that chromosome 7q21-q31 is a major locus for myoclonus-dystonia with several phenotypes...
  55. ncbi Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
    Giovanni Stevanin
    1INSERM, U679, Universite Pierre et Marie Curie Paris 6, UMR S679, Paris, France
    Brain 131:772-84. 2008
    ..In conclusion, our study reveals the high frequency of SPG11 mutations in patients with HSP, a TCC and cognitive impairment, including in isolated patients, and extends the associated phenotype...
  56. ncbi [Recent insights into the implication of ion channels in familial forms of epilepsies associated or non associated to febrile convulsions]
    I Gourfinkel-An
    Unité d épileptologie, Hopital Pitie Salpetriere, Paris, France
    Rev Neurol (Paris) 160:S90-7. 2004
    ..This is the case for some generalized idiopathic epilepsies and generalized epilepsies associated with febrile seizures. In this Article, we review the recent clinical and genetic data of these forms of epilepsy...
  57. ncbi First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene
    S Baulac
    INSERM U289, cytogénétique et embryologie, Hopital de la Pitie Salpetriere, Paris, France
    Nat Genet 28:46-8. 2001
    ..We thus provide the first genetic evidence that a GABA(A) receptor is directly involved in human idiopathic epilepsy...
  58. ncbi Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians
    G Stevanin
    INSERM U 289, Federative Institute for Neuroscience Research IFR 70, Salpetriere Hospital, Paris, France
    Neurology 63:936. 2004
  59. pmc Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study Group
    J Tassin
    INSERM U289, Hôpital de la Salpêtière, Paris, France
    Am J Hum Genet 63:88-94. 1998
    ..The clinical spectrum of the disease in our families, with age at onset <=58 years and the presence of painful dystonia in some patients, is broader than that reported previously...
  60. ncbi A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease
    N Abbas
    INSERM U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Hum Mol Genet 8:567-74. 1999
    ....
  61. pmc Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation
    A Herman-Bert
    INSERM U289, Hopital de la Salpetriere, Paris, France
    Am J Hum Genet 67:229-35. 2000
    ..We performed a genomewide search and found significant evidence for linkage to chromosome 19q13.3-q13.4, in an approximately 8-cM interval between markers D19S219 and D19S553...
  62. ncbi Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia
    N Elleuch
    INSERM U679, Neurology and Experimental Therapeutics, Département de génétique, cytogenetique, et Embryologie, Hopital de la Pitie Salpetriere, Universite Pierre et Marie Curie, Faculte de Medecine, Paris, France
    Neurology 66:654-9. 2006
    ..Mutations in the SPG7 gene, which encodes paraplegin, are responsible for an autosomal recessive hereditary spastic paraplegia (HSP)...
  63. pmc A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33
    S Baulac
    INSERM U289, Hopital de la Salpetriere, Paris Cedex, France
    Am J Hum Genet 65:1078-85. 1999
    ..Four genes coding for different isoforms of the alpha-subunit voltage-gated sodium channels (SCN1A, SCN2A1, SCN2A2, and SCN3A) located in this region are strong candidates for the disease gene...
  64. ncbi CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients
    G Stevanin
    INSERM U289 and Institut Fédératif des Neurosciences, Paris, France
    Neurology 58:965-7. 2002
    ..A single patient of North African origin with typical HD carried an allele with 50 uninterrupted repeats, representing approximately 2% of the non-IT15 HD patients tested. Therefore, further genetic heterogeneity is expected in HD...
  65. ncbi A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
    Sylvain Hanein
    INSERM, Unit 679, 47 bd de l Hopital, 75013 Paris, France
    Hum Genet 122:261-73. 2007
    ..3-23.31, was found to segregate in all affected patients (but not in probably or possibly affected subjects) and in a high proportion of healthy at risk individuals, suggesting that this locus might act as a modifier of the phenotype...
  66. doi Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
    Paola S Denora
    INSERM, UMR_S679, Paris, France
    Hum Mutat 30:E500-19. 2009
    ..While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing...
  67. ncbi Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1
    I Le Ber
    INSERM U679, Hopital de la Pitie Salpetriere, Paris, France
    Neurology 68:295-7. 2007
    ..We measured muscle CoQ10 levels in six patients with AOA1 and found decreased levels in five. Patients homozygous for the W279X mutation had lower values (p = 0.003). A therapeutic trial of CoQ10 may be warranted in patients with AOA1...
  68. ncbi Cloning of rat parkin cDNA and distribution of parkin in rat brain
    W J Gu
    INSERM U 289, Hopital de la Salpetriere, Paris, France
    J Neurochem 74:1773-6. 2000
    ..Thus, the role of parkin may be much more global than previously thought on the basis of genetic findings gathered in cases of early-onset parkinsonism...
  69. ncbi Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
    G David
    INSERM U289, Hopital de la Salpetriere, Paris, France
    Nat Genet 17:65-70. 1997
    ..SCA7 is the first such disorder in which the degenerative process also affects the retina...
  70. ncbi Parkin immunoreactivity in the brain of human and non-human primates: an immunohistochemical analysis in normal conditions and in Parkinsonian syndromes
    M Zarate-Lagunes
    INSERM U 289, Hopital de la Salpetriere, 47 bd de l Hopital, 75013 Paris, France
    J Comp Neurol 432:184-96. 2001
    ..Thus, the degeneration of dopaminergic neurons in familial cases of Parkinson's disease with autosomal recessive transmission cannot be explained solely in terms of an alteration of this protein...
  71. ncbi PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases
    Junko Takahashi
    Laboratoire de Neuropathologie Raymond Escourolle, Hopital de la Salpetriere, AP HP, Paris, France
    Neurobiol Dis 13:230-7. 2003
    ..These data suggest that NIIs originate from nuclear bodies, where mutant proteins accumulate for degradation...
  72. doi SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7
    Alexandre Janer
    INSERM, UMRS 975, CNRS UMR 7225, Paris, France
    Hum Mol Genet 19:181-95. 2010
    ..Our results demonstrate an influence of SUMOylation on the multistep aggregation process of ATXN7 and implicate a role for ATXN7 SUMOylation in SCA7 pathogenesis...
  73. ncbi [Parkinson's disease: what have we learned from the genes responsible for familial forms?]
    Olga Corti
    INSERM U 289, Laboratoire de neurologie et thérapeutique expérimentale, Paris, France
    Med Sci (Paris) 19:613-9. 2003
    ....
  74. ncbi Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
    Nizar Elleuch
    INSERM, U679, Groupe Hospitalier Pitie Salpetriere, 47 bd de l Hopital, 75013 Paris, France
    Neurogenetics 8:307-15. 2007
    ..Our study highlights the phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with HSP and significantly reduces the SPG15 locus...
  75. ncbi Mental deficiency in three families with SPG4 spastic paraplegia
    Pascale Ribai
    Department of Genetics and Cytogenetics, AP HP, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Eur J Hum Genet 16:97-104. 2008
    ..Arg499Cys substitutions in the SPG4 gene. Since two of these mutations were previously reported in families with a pure form of the disease, another genetic factor linked to SPG4 could be responsible for this complex phenotype...
  76. pmc The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2
    G Stevanin
    INSERM U289, Hopital de la Salpetriere, Paris, France
    Am J Hum Genet 56:193-201. 1995
    ..3-q32.2 containing the gene for the Machado-Joseph disease, which is clinically related to the phenotype determined by SCA3, but it cannot yet be concluded that both diseases result from alterations of the same gene...
  77. doi Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms
    Pablo Ibanez
    Institut National de la Sante et de la Recherche Medicale INSERM, Unité Mixte de Recherche en Santé UMR _S679 Neurologie and Thérapeutique Expérimentale, F 75013, Paris, France
    Arch Neurol 66:102-8. 2009
    ..The aim of this study was to assess the frequency and phenotype of SNCA rearrangements in a large series of families with typical or atypical AD parkinsonism...
  78. ncbi Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content
    Junko Takahashi
    Laboratoire de Neuropathologie Raymond Escourolle, Paris, France
    Brain 125:1534-43. 2002
    ..CREB-binding protein (CBP), another component of NBs, was distributed like PML in NIIs. Our results suggest that NIIs are formed by the accumulation of ataxin-7 in NBs, which become enlarged as they recruit related proteins...
  79. ncbi Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions
    Danielle Seilhean
    Laboratoire de Neuropathologie Raymond Escourolle, INSERM U360, Association Claude Bernard, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651, Paris Cedex 13, France
    Acta Neuropathol 108:81-7. 2004
    ..At the ultrastructural level, the nuclear inclusions were made of straight filaments (10-12 nm in diameter) arranged at random, reminiscent of the polyglutamine intranuclear hyaline inclusions...
  80. ncbi How much phenotypic variation can be attributed to parkin genotype?
    Ebba Lohmann
    INSERM U289, Hopital de la Salpetriere, Paris, France
    Ann Neurol 54:176-85. 2003
    ..Patients with a single heterozygous mutation had significantly later and more asymmetrical onset and more frequent levodopa-induced fluctuations and dystonia than patients with two mutations...
  81. ncbi Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description
    Stephan Klebe
    INSERM U679, Pierre and Marie Curie Paris 6 University, Pitie Salpetriere Hospital, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Am J Med Genet B Neuropsychiatr Genet 144:854-61. 2007
    ..We have refined the SPG5 locus to a 3.8 cM interval and extended the phenotype of this form of ARHSP to include slight cerebellar signs...
  82. ncbi Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
    E LeGuern
    INSERM U289, Hopital de la Salpetriere, Paris, France
    Hum Mol Genet 5:1685-8. 1996
    ..Haplotype reconstruction and determination of the minimal region of homozygosity restricts the candidate region to a 4 cM interval...
  83. ncbi Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hd0519
    C Depienne
    INSERM U679, Hopital de la Salpetriere, 75013 Paris, France
    Hum Genet 118:776. 2006
  84. pmc Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma
    H Azzedine
    U289 INSERM, Assistance Publique Hopitaux de Paris, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Am J Hum Genet 72:1141-53. 2003
    ..MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork, which permits the outflow of the aqueous humor. Both of these tissues have the same embryonic origin...
  85. pmc Apolipoprotein E and Alzheimer disease: genotype-specific risks by age and sex
    H Bickeboller
    INSERM U155, Chateau de Longchamp, Paris, France
    Am J Hum Genet 60:439-46. 1997
    ..In epsilon3/epsilon4 individuals, sex-specific lifetime risk estimates by age 85 years (i.e., sex-specific penetrances by age 85 years) were 0.14 (95% CI 0.04-0.30) for men and 0.17 (95% CI 0.09-0.28) for women...
  86. ncbi A new phenotype linked to SPG27 and refinement of the critical region on chromosome
    Pascale Ribai
    INSERM U679 former U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75013 Paris, France
    J Neurol 253:714-9. 2006
    ..6 cM. This is the first clinical description of a complicated form of spastic paraplegia, characterized by great phenotypic variability among the sibs, associated with the SPG27 locus...
  87. ncbi Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity
    Cornelia Hampe
    Neurologie et Thérapeutique Expérimentale, INSERM U679 Université Pierre and Marie Curie, Paris, France
    Hum Mol Genet 15:2059-75. 2006
    ..The discovery of monoubiquitylated Parkin species in cells hints at a novel post-translational modification potentially involved in the regulation of Parkin function...
  88. ncbi A locus for simple pure febrile seizures maps to chromosome 6q22-q24
    Rima Nabbout
    INSERM U289, Service de Neuro Pédiatrie, Hopital Saint Vincent de Paul, Paris, France
    Brain 125:2668-80. 2002
    ..The locus mapping to 6q22-q24 seems to be the first identified locus responsible for pure simple FS, the most frequent form of FS. Studies are ongoing to identify the gene...
  89. ncbi Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism
    Suzanne Lesage
    INSERM U679, Neurology and Experimental Therapeutics, Centre Hospitalier Universitaire CHU Pitié Salpêtrière, Assistance Publique Hopitaux de Paris AP HP, Paris, France
    Hum Mutat 28:27-32. 2007
    ..1-?_7+?del mutation. The phenotypes of patients with promoter deletions and consequently absence of parkin and possibly PACRG expression, were similar to and no more severe than those of other EOPD patients with parkin mutations...
  90. ncbi Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
    Giovanni Stevanin
    INSERM U679, Salpetriere Hospital, 47 Boulevard de l Hopital, 75013 Paris, France
    Neurogenetics 7:149-56. 2006
    ..Our findings suggest that ARHSP-TCC is the most frequent form of ARHSP in Mediterranean countries and that it is particularly frequent in Italy...
  91. ncbi Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa
    Pablo Ibanez
    INSERM U679, Neurologie et Thérapeutique Expérimentale, CHU Pitie Salpetriere, Paris, France
    Brain 129:686-94. 2006
    ..These results suggest that PINK1 is the second most frequent causative gene in early-onset Parkinson's disease with a slowly progressive phenotype, indistinguishable from early-onset patients with parkin mutations...
  92. doi Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4)
    Giovanni Stevanin
    INSERM U679, Groupe Pitié Salpêtrière, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Cerebellum 7:170-8. 2008
    ..Interestingly, the TBP protein mutated in SCA17 is recruited in the inclusions of other polyglutaminopathies, suggesting its involvement in the transcription down-regulation observed in these diseases...
  93. ncbi Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients
    Isabelle Le Ber
    Federation de Neurologie, hôpital Pitié Salpêtrière AP HP, Paris, France
    Brain 127:759-67. 2004
    ..In adults, AOA2 may be, therefore, the most frequent cause of ARCA identified so far, after Friedreich's ataxia...
  94. ncbi Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
    Giovanni Stevanin
    INSERM, UMR679, Federal Institute for Neuroscience Research, Pitie Salpetriere Hospital, Paris, France
    Nat Genet 39:366-72. 2007
    ..The identification of the function of the gene will provide insight into the mechanisms leading to the degeneration of the corticospinal tract and other brain structures in this frequent form of ARHSP...
  95. ncbi Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p
    Giovanni Stevanin
    INSERM U289, Federative Institute for Neuroscience Research IFR 70, Paris
    Ann Neurol 55:97-104. 2004
    ..The gene responsible for SCA25 remains to be identified...
  96. ncbi Gene symbol: PARK2. Disease: Parkinsonism, juvenile, autosomal recessive
    Suzanne Lesage
    INSERM, U679, Boulevard de l Hopital, 47, 75013 Paris, France
    Hum Genet 123:114. 2008
  97. ncbi Spinocerebellar ataxia with mental retardation (SCA13)
    Giovanni Stevanin
    INSERM U679 former U289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Cerebellum 4:43-6. 2005
    ..The responsible gene has been assigned to a 5.2 Mbases interval on chromosome 19q in a single French family...
  98. ncbi Spinocerebellar ataxia with sensory neuropathy (SCA25)
    Giovanni Stevanin
    INSERM U679 former U289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Cerebellum 4:58-61. 2005
    ..Clinical variability ranges from incomplete penetrance at age 61 to a Friedreich ataxia-like syndrome. The responsible locus was mapped to chromosome 2p in a large region of 14 Mbases in a single French kindred...
  99. ncbi Recent advances in the genetics of spastic paraplegias
    Giovanni Stevanin
    INSERM UPMC Univ Paris 6 UMR_S679, Groupe Hospitalier Pitie Salpetriere, 47 bd de l Hopital, 75013 Paris, France
    Curr Neurol Neurosci Rep 8:198-210. 2008
    ....
  100. ncbi Gene symbol: PARK2. Disease: Parkinsonism, juvenile, autosomal recessive
    Suzanne Lesage
    INSERM, U679, Boulevard de l Hopital, 47, 75013 Paris
    Hum Genet 123:114. 2008
  101. pmc PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins
    Alexandre Janer
    Institut National de la Santé et de la Recherche Médicale U679, Neurologie et Thérapeutique Expérimentale, 75651 Paris Cedex 13, France
    J Cell Biol 174:65-76. 2006
    ..Therefore, clastosomes represent a potential therapeutic target for preventing polyQ disorders...

Research Grants4

  1. Parkin mutations and their functional consequences
    Alexis Brice; Fiscal Year: 2005
    ....