Cecile Cazeneuve

Summary

Country: France

Publications

  1. ncbi 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. ncbi 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. ncbi 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. ncbi 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. ncbi 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
  6. ncbi 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
  7. ncbi 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
  8. ncbi 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

Collaborators

Detail Information

Publications8

  1. ncbi 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. ncbi 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. ncbi 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. ncbi 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. ncbi 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...
  6. ncbi 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...
  7. ncbi 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...
  8. ncbi 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...