Movement Disorders (revue) - Analysis (France)

Index « Auteurs » - entrée « Bernard Sablonnière »
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Bernard Sablonniere < Bernard Sablonnière < Bernardino Ghetti  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 5.
Ident.Authors (with country if any)Title
000150 (2011) Arnaud Blanchard [France] ; Agathe Roubertie [France] ; Marion Simonetta-Moreau [France] ; Vuthy Ea [France] ; Coline Coquart [France] ; Melissa Y. Frederic [France] ; Gael Gallouedec [France] ; Jean-Paul Adenis [France] ; Isabelle Benatru [France] ; Michel Borg [France] ; Pierre Burbaud [France] ; Patrick Calvas [France] ; Laura Cif [France] ; Philippe Damier [France] ; Alain Destée [France] ; Laurence Faivre [France] ; Lucie Guyant-Marechal [France] ; Piotr Janik [Pologne] ; Samer Janoura [France] ; Alexandre Kreisler [France] ; Anna Lusakowska [Pologne] ; Sylvie Odent [France] ; Anna Potulska-Chromik [Pologne] ; Monika Rudzi Ska [Pologne] ; Stephane Thobois [France] ; Isabelle Vuillaume [France] ; Christine Tranchant [France] ; Sylvie Tuffery-Giraud [France] ; Philippe Coubes [France] ; Bernard Sablonnière [France] ; Mireille Claustres [France] ; Gwenaelle Collod-Béroud [France]Singular DYT6 phenotypes in association with new THAP1 frameshift mutations
000264 (2009) Dominique Caparros-Lefebvre [France] ; Olivier Kerdraon [France] ; David Devos [France] ; C. M. Dhaenens [France] ; David Blum [France] ; C. A Maurage [France] ; André Delacourte [France] ; Bernard Sablonnière [France]Association of corticobasal degeneration and Huntington's disease: Can Tau aggregates protect Huntingtin toxicity?
000359 (2006) David Devos [France] ; Isabelle Vuillaume [France] ; Alix De Becdelievre [France] ; Berengère De Martinville [France] ; Claire-Marie Dhaenens [France] ; Jean-Christophe Cuvellier [France] ; Jean-Marie Cuisset [France] ; Louis Vallée [France] ; Marie-Pierre Lemaitre [France] ; Hélène Bourteel [France] ; Eric Hachulla [France] ; Benoit Wallaert [France] ; Alain Destée [France] ; Luc Defebvre [France] ; Bernard Sablonnière [France]New syndromic form of benign hereditary chorea is associated with a deletion of TITF‐1 and PAX‐9 contiguous genes
000410 (2005) Claire-Marie Dhaenens [France] ; Pierre Krystkowiak [France] ; Xavier Douay [France] ; Pierre Charpentier [France] ; Sylvain Bele [France] ; Alain Destée [France] ; Bernard Sablonnière [France]Clinical and genetic evaluation in a French population presenting with primary focal dystonia
000521 (2000) Alain Destée [France] ; Isabelle Delalande [France] ; Isabelle Vuillaume [France] ; Susanna Schraen-Maschke [France] ; Luc Defebvre [France] ; Bernard Sablonnière [France]The first identified French family with dentatorubral‐pallidoluysian atrophy

List of associated KwdEn.i

Nombre de
documents
Descripteur
5Female
5Humans
4Male
3Adult
3Aged
3Nervous system diseases
2DNA Mutational Analysis
2French
2Middle Aged
2Nuclear Proteins (genetics)
2Phenotype
1Age Factors
1Age of Onset
1Apoptosis Regulatory Proteins (genetics)
1Basal Ganglia (pathology)
1Blepharospasm (genetics)
1CAG repeat
1Carrier Proteins (genetics)
1Caucasoid
1Cerebral Cortex (pathology)
1Child
1Child, Preschool
1Chorea
1Chorea (genetics)
1Chorea (physiopathology)
1Chromosome Mapping
1Chromosomes, Human, Pair 14
1Chromosomes, Human, Pair 9
1DNA-Binding Proteins (genetics)
1Deletion
1Dementia (genetics)
1Dentatorubral
1Dentatorubropallidoluysian atrophy
1Diagnosis, Differential
1Dystonia
1Dystonia Musculorum Deformans (genetics)
1Dystonia Musculorum Deformans (physiopathology)
1Dystonic Disorders (classification)
1Dystonic Disorders (epidemiology)
1Dystonic Disorders (genetics)
1Evaluation
1Family Health
1Family study
1Frameshift Mutation (genetics)
1Frameshift mutation
1France
1France (epidemiology)
1Gene Deletion
1Gene penetrance
1Genetic determinism
1Genotype
1Huntington Disease (complications)
1Huntington Disease (genetics)
1Huntington Disease (metabolism)
1Huntington Disease (pathology)
1In Situ Hybridization, Fluorescence (methods)
1Incomplete penetrance
1Linkage Disequilibrium
1Lung
1Lung Diseases (etiology)
1Microsatellite Repeats (genetics)
1Molecular biology
1Movement Disorders (genetics)
1Mutation
1Myoclonic Epilepsies, Progressive (complications)
1Myoclonic Epilepsies, Progressive (diagnosis)
1Myoclonic Epilepsies, Progressive (ethnology)
1Myoclonic Epilepsies, Progressive (genetics)
1Nerve Tissue Proteins (metabolism)
1Neurodegenerative Diseases (complications)
1Neurodegenerative Diseases (metabolism)
1Neurodegenerative Diseases (pathology)
1Nuclear Proteins (metabolism)
1PAX gene
1PAX9 Transcription Factor (genetics)
1Pallidoluysian atrophy
1Pedigree
1Retrospective Studies
1TITF‐1 gene
1Thyroid Diseases (etiology)
1Thyroid gland
1Tooth Diseases (etiology)
1Transcription Factors (genetics)
1Trinucleotide Repeat Expansion (genetics)
1Trinucleotide Repeats
1benign hereditary chorea
1brain–thyroid–lung syndrome
1movement disorders
1tau Proteins (metabolism)

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