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Movement Disorders (revue) - Analysis (France)

Index « Auteurs » - entrée « Diane Doummar »
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Diana Rodriguez < Diane Doummar < Diane Ruge  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 6.
Ident.Authors (with country if any)Title
000025 (2015) Diane Doummar [France] ; Cyril Mignot [France] ; Emmanuelle Apartis [France] ; Laurent Villard [France] ; Diana Rodriguez [France] ; Sandra Chantot-Bastauraud [France] ; Lydie Burglen [France]A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.
000057 (2013) Anne Roubergue [France] ; Emmanuel Roze ; Sandrine Vuillaumier-Barrot ; Marie-Joséphine Fontenille ; Aurélie Méneret ; Marie Vidailhet ; Bertrand Fontaine ; Diane Doummar ; Bertrand Philibert ; Florence Riant ; Sophie NicoleThe multiple faces of the ATP1A3-related dystonic movement disorder.
000220 (2010) Cecilia Bonnet [France] ; Agathe Roubertie [France] ; Diane Doummar [France] ; Nadia Bahi-Buisson [France] ; Valérie Cochen De Cock [France] ; Emmanuel Roze [France]Developmental and benign movement disorders in childhood
000251 (2009) Diane Doummar [France] ; Fabienne Clot [France] ; Marie Vidailhet [France] ; Alexandra Afenjar [France] ; Alexandra Durr [France] ; Alexis Brice [France] ; Cyril Mignot [France] ; Agnès Guet [France] ; Thierry Billette De Villemeur [France] ; Diana Rodriguez [France]Infantile hypokinetic‐hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene
000360 (2006) Emmanuel Roze [France] ; Marie Vidailhet [France] ; Nenad Blau [Suisse] ; Lisbeth Birk Moller [Danemark] ; Diane Doummar [France] ; Thierry Billette De Villemeur [France] ; Anne Roubergue [France]Long‐term follow‐up and adult outcome of 6‐pyruvoyl‐tetrahydropterin synthase deficiency
000408 (2005) Emmanuel Roze [France] ; Eduard Paschke [Autriche] ; Nathalie Lopez [France] ; Thomas Eck [Autriche] ; Kunihiro Yoshida [Japon] ; Annie Maurel-Ollivier [France] ; Diane Doummar [France] ; Catherine Caillaud [France] ; Damien Galanaud [France] ; Thierry Billette De Villemeur [France] ; Marie Vidailhet [France] ; Anne Roubergue [France]Dystonia and parkinsonism in GM1 type 3 gangliosidosis

List of associated KwdEn.i

Nombre de
documents		Descripteur
5Humans
4Female
3Adolescent
3Adult
3Dystonia
3Infant
3Nervous system diseases
2Child
2Child, Preschool
2Deficiency
2Dystonia (diagnosis)
2Mutation (genetics)
2symptomatic dystonia
16‐pyruvoyl‐tetrahydropterin synthase deficiency
1Age of Onset
1Alleles
1Antiparkinson Agents (therapeutic use)
1Athetosis (diagnosis)
1Athetosis (drug therapy)
1Athetosis (enzymology)
1Behavior
1Body Height
1Bone Diseases, Developmental (radiography)
1Chorea (diagnosis)
1Chorea (drug therapy)
1Chorea (enzymology)
1Choreoathetosis
1DNA Mutational Analysis
1Developmental Disabilities (classification)
1Developmental Disabilities (complications)
1Developmental Disabilities (therapy)
1Developmental disorder
1Diagnosis, Differential
1Dose-Response Relationship, Drug
1Dystonia (drug therapy)
1Dystonia (enzymology)
1Dystonia (etiology)
1Dystonic Disorders (genetics)
1Dystonic Disorders (physiopathology)
1Exons (genetics)
1Family
1Follow-Up Studies
1GM1 gangliosidosis
1Galactosidase
1Gangliosidosis, GM1 (complications)
1Gangliosidosis, GM1 (diagnosis)
1Gangliosidosis, GM1 (genetics)
1Hemiplegia (genetics)
1Hemiplegia (physiopathology)
1Homovanillic Acid (metabolism)
1Hydroxyindoleacetic Acid (metabolism)
1Hyperphenylalaninemia
1Infant, Newborn
1Levodopa (therapeutic use)
1Lipids
1Long term
1Long-Term Care
1Lysosomal storage disease
1Male
1Malignant tumor
1Mental retardation
1Middle Aged
1Mirror
1Movement Disorders (classification)
1Movement Disorders (complications)
1Movement Disorders (therapy)
1Muscle Hypotonia (diagnosis)
1Muscle Hypotonia (drug therapy)
1Muscle Hypotonia (enzymology)
1Muscle Hypotonia (genetics)
1Muscle Hypotonia (metabolism)
1Muscle Hypotonia (physiopathology)
1Myoclonus
1Neonatal
1Neurologic Examination
1Newborn
1Nystagmus
1Parkinson Disease (genetics)
1Parkinson Disease (physiopathology)
1Parkinsonian Disorders (etiology)
1Parkinsonism
1Phenylketonurias (diagnosis)
1Phenylketonurias (drug therapy)
1Phenylketonurias (enzymology)
1Phosphorus-Oxygen Lyases (deficiency)
1Point Mutation (genetics)
1Polymerase Chain Reaction
1Prognosis
1Pterins (metabolism)
1Rhythmic movement
1Sleep
1Sleep disorder
1Sodium-Potassium-Exchanging ATPase (genetics)
1Stereotypic Movement Disorder (epidemiology)
1Stereotypic Movement Disorder (physiopathology)
1Stereotypy
1Synthase
1Tetrahydrobiopterin
1Torticollis
1Transients

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