Cecile Cazeneuve

Summary

Country: France

Publications

  1. doi A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease
    Cecile Cazeneuve
    Département de génétique et cytogénétique, U F de Neurogénétique, Assistance Publique Hopitaux de Paris, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Neurogenetics 10:265-70. 2009
  2. doi Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis
    Stephanie Millecamps
    Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, Inserm UMR_S975, CNRS UMR7225, Université Pierre et Marie Curie Paris, Hopital Pitie Salpetriere, Paris, France
    Neurobiol Aging 33:839.e1-3. 2012
  3. doi Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
    Stephanie Millecamps
    Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, INSERMUMR_S975, CNRS UMR7225, Universite Pierre et Marie Curie Paris 6, Hopital Pitie Salpetriere, Paris, France
    J Med Genet 49:258-63. 2012
  4. doi SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations
    Stephanie Millecamps
    Centre de Recherche de l Institut du Cerveau et de la Moelle épinière INSERM UMR_S975, CNRS UMR7225, Universite Pierre et Marie Curie Paris 6, Hopital Pitie Salpetriere, Paris, France
    J Med Genet 47:554-60. 2010
  5. doi Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
    Elisa Teyssou
    Inserm UMR_S975, CNRS UMR7225, Université Pierre et Marie Curie Sorbonne Universités, Hopital Pitie Salpetriere, Paris, France
    Acta Neuropathol 125:511-22. 2013
  6. doi Screening of OPTN in French familial amyotrophic lateral sclerosis
    Stephanie Millecamps
    Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, Inserm UMR_S975, CNRS UMR7225, Universite Pierre et Marie Curie Paris 6, Hopital Pitie Salpetriere, Paris, France
    Neurobiol Aging 32:557.e11-3. 2011
  7. doi TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts
    Isabelle Le Ber
    Institut du Cerveau et de la Moëlle épinière ICM, Inserm U1127, CNRS UMR 7225, Sorbonne Universités, Universite Pierre et Marie Curie, Univ Paris 06, UPMC P6 UMR S 1127 Hôpital de la Pitié Salpêtrière, Paris, France Centre de Référence des Démences Rares, Assistance Publique Hopitaux de Paris AP HP, Hopital de la Pitie Salpetriere, Paris, France Département des maladies du système nerveux, AP HP, Hopital de la Pitie Salpetriere, Paris, France
    Neurobiol Aging 36:3116.e5-8. 2015
  8. doi Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features
    Francesco Bombelli
    Groupe hospitalier GH Pitié Salpêtrière, Centre de référence des maladies neuromusculaires Paris Est, Institut de Myologie, Assistance Publique Hopitaux de Paris AP HP, Paris, France
    JAMA Neurol 71:1036-42. 2014
  9. doi Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C
    Marion Yger
    APHP, Center for reference of neuromuscular diseases Paris Est, Institut de Myologie, Hopital de la Pitie Salpetriere, 47 83 boulevard de l Hopital, Paris, France
    J Peripher Nerv Syst 17:112-22. 2012
  10. pmc CAG repeat size in Huntingtin alleles is associated with cancer prognosis
    Morgane Sonia Thion
    Institut Curie, Paris, France
    Eur J Hum Genet 24:1310-5. 2016

Collaborators

Detail Information

Publications14

  1. doi A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease
    Cecile Cazeneuve
    Département de génétique et cytogénétique, U F de Neurogénétique, Assistance Publique Hopitaux de Paris, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Neurogenetics 10:265-70. 2009
    ....
  2. doi Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis
    Stephanie Millecamps
    Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, Inserm UMR_S975, CNRS UMR7225, Université Pierre et Marie Curie Paris, Hopital Pitie Salpetriere, Paris, France
    Neurobiol Aging 33:839.e1-3. 2012
    ..This variant did not segregate with the disease in the corresponding family and was also detected in 1/380 control subject. Our results suggest that UBQLN2 gene mutations are rare in French ALS...
  3. doi Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
    Stephanie Millecamps
    Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, INSERMUMR_S975, CNRS UMR7225, Universite Pierre et Marie Curie Paris 6, Hopital Pitie Salpetriere, Paris, France
    J Med Genet 49:258-63. 2012
    ....
  4. doi SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations
    Stephanie Millecamps
    Centre de Recherche de l Institut du Cerveau et de la Moelle épinière INSERM UMR_S975, CNRS UMR7225, Universite Pierre et Marie Curie Paris 6, Hopital Pitie Salpetriere, Paris, France
    J Med Genet 47:554-60. 2010
    ..Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified in amyotrophic lateral sclerosis (ALS)...
  5. doi Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
    Elisa Teyssou
    Inserm UMR_S975, CNRS UMR7225, Université Pierre et Marie Curie Sorbonne Universités, Hopital Pitie Salpetriere, Paris, France
    Acta Neuropathol 125:511-22. 2013
    ..Our results confirm that SQSTM1 gene mutations could be the cause or genetic susceptibility factor of ALS in some patients...
  6. doi Screening of OPTN in French familial amyotrophic lateral sclerosis
    Stephanie Millecamps
    Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, Inserm UMR_S975, CNRS UMR7225, Universite Pierre et Marie Curie Paris 6, Hopital Pitie Salpetriere, Paris, France
    Neurobiol Aging 32:557.e11-3. 2011
    ..Western blot experiments on the patients' lymphoblasts showed that the former variant led to a loss of function and the latter did not cause protein accumulation. Our results do not confirm the contribution of OPTN in ALS...
  7. doi TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts
    Isabelle Le Ber
    Institut du Cerveau et de la Moëlle épinière ICM, Inserm U1127, CNRS UMR 7225, Sorbonne Universités, Universite Pierre et Marie Curie, Univ Paris 06, UPMC P6 UMR S 1127 Hôpital de la Pitié Salpêtrière, Paris, France Centre de Référence des Démences Rares, Assistance Publique Hopitaux de Paris AP HP, Hopital de la Pitie Salpetriere, Paris, France Département des maladies du système nerveux, AP HP, Hopital de la Pitie Salpetriere, Paris, France
    Neurobiol Aging 36:3116.e5-8. 2015
    ..8%) than in isolated ALS. TBK1 should thus also be sequenced, after exclusion of C9orf72 mutation, in patients presenting FTD, particularly in cases secondarily associated with ALS. ..
  8. doi Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features
    Francesco Bombelli
    Groupe hospitalier GH Pitié Salpêtrière, Centre de référence des maladies neuromusculaires Paris Est, Institut de Myologie, Assistance Publique Hopitaux de Paris AP HP, Paris, France
    JAMA Neurol 71:1036-42. 2014
    ..Axonal Charcot-Marie-Tooth disease (CMT) is genetically heterogeneous, with 11 genes identified. Axonal CMT has most frequently been associated with mutations in the MFN2 gene (CMT2A)...
  9. doi Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C
    Marion Yger
    APHP, Center for reference of neuromuscular diseases Paris Est, Institut de Myologie, Hopital de la Pitie Salpetriere, 47 83 boulevard de l Hopital, Paris, France
    J Peripher Nerv Syst 17:112-22. 2012
    ..The hallmark of the electrophysiological study was the presence of probable conduction block and temporal dispersion. Thus the clinical and paraclinical spectrum of CMT4C can guide the clinician to perform analysis of the SH3TC2 gene...
  10. pmc CAG repeat size in Huntingtin alleles is associated with cancer prognosis
    Morgane Sonia Thion
    Institut Curie, Paris, France
    Eur J Hum Genet 24:1310-5. 2016
    ..We concluded that whereas long CAG length could be associated with lower cancer incidence, it could also be paradoxically associated with cancer severity (age of apparition and metastasis development). ..
  11. pmc Prenatal testing in Huntington disease: after the test, choices recommence
    Hanane Bouchghoul
    APHP, Department of Gynaecology Obstetrics, University Hospital Pitie Salpetriere, Sorbonne Universities, Paris, France
    Eur J Hum Genet 24:1535-1540. 2016
    ..Couples may need more psychological support after PND and pre-counselling sessions should take into account the effect of the outcome of a first PND on subsequent reproductive choices...
  12. doi Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach
    Louise Laure Mariani
    Assistance Publique Hopitaux de Paris, Pitie Salpetriere University Hospital, Department of Genetics, Paris, France2Assistance Publique Hôpitaux de Paris, Pitie Salpetriere University Hospital, Department of Neurology, Paris, France
    JAMA Neurol 73:1105-14. 2016
    ..However, not all patients with an HD phenotype carry the pathological expansion in HTT, and the positive diagnosis rate is poor...
  13. doi Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia
    Sophie Tezenas du Montcel
    Department of Biostatistics and Medical Informatics, and Pitié Salpêtrière Charles Foix Clinical Research Unit, Hopital Pitie Salpetriere, 47 Boulevard de l Hopital, Paris, France
    Arch Neurol 69:500-8. 2012
    ..To evaluate disease progression and determine validity of clinical tools for therapeutic trials...
  14. doi Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation
    Danielle Seilhean
    Département de Neuropathologie, UPMC Universite Paris 06, AP HP, Assistance Publique Hopitaux de Paris, Groupe Hospitalier Pitie Salpetriere, INSERM UMR S 546 DS and UMR S 679 CD, 47 83 boulevard de l Hopital, Paris Cedex 13, France
    Acta Neuropathol 118:561-73. 2009
    ..Angiogenin is known to interact with actin. Like other proteins involved in ALS pathogenesis, such as senataxin, TDP-43 and FUS/TLS, it plays a role in RNA maturation...