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Articles in journal or book chapters
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F. Ochsner,
I. Le Ber,
G. Said,
M. C. Moreira,
P. Michel,
M. Koenig,
A. Durr,
A. Brice,
and T. Kuntzer.
[Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia].
Rev Neurol (Paris),
161(3):331-6,
2005.
Note: Case ReportsEnglish AbstractJournal ArticleFrance.
[WWW]
Keyword(s): Brain/pathology,
Cerebellar Ataxia/*genetics/pathology,
Charcot-Marie-Tooth Disease/*genetics/pathology,
DNA-Binding Proteins/*genetics,
Humans,
Infant,
Magnetic Resonance Imaging,
Male,
Nuclear Proteins/*genetics,
Phenotype,
Sural Nerve/pathology.
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A. Slama,
C. Lacroix,
V. Plante-Bordeneuve,
A. Lombes,
M. Conti,
J. M. Reimund,
E. Auxenfants,
P. Crenn,
P. Laforet,
A. Joannard,
D. Seguy,
H. Pillant,
P. Joly,
S. Haut,
B. Messing,
G. Said,
A. Legrand,
and A. Guiochon-Mantel.
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
Mol Genet Metab,
84(4):326-31,
2005.
Note: Journal ArticleUnited States.
[WWW]
Keyword(s): Adult,
Child,
DNA,
Mitochondrial/genetics,
Humans,
Intestinal Pseudo-Obstruction/genetics,
Mitochondrial Encephalomyopathies/*genetics,
*Mutation,
Sequence Deletion,
Syndrome,
Thymidine/blood/urine,
Thymidine Phosphorylase/*genetics/metabolism.
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I. Le Ber,
M. C. Moreira,
S. Rivaud-Pechoux,
C. Chamayou,
F. Ochsner,
T. Kuntzer,
M. Tardieu,
G. Said,
M. O. Habert,
G. Demarquay,
C. Tannier,
J. M. Beis,
A. Brice,
M. Koenig,
and A. Durr.
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
Brain,
126(Pt 12):2761-72,
2003.
Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology.
[WWW]
Keyword(s): Adult,
Apraxias/*genetics/pathology/psychology,
Cerebellar Ataxia/*genetics/pathology/psychology,
Cognition Disorders/etiology,
DNA-Binding Proteins/genetics,
Disease Progression,
Electrooculography,
Humans,
Magnetic Resonance Imaging,
Male,
Mutation,
Neuropsychological Tests,
Nuclear Proteins/genetics,
Ocular Motility Disorders/*genetics/pathology/psychology,
Phenotype,
Sural Nerve/ultrastructure.
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E. Roze,
D. Gervais,
S. Demeret,
H. Ogier de Baulny,
J. Zittoun,
J. F. Benoist,
G. Said,
C. Pierrot-Deseilligny,
and F. Bolgert.
Neuropsychiatric disturbances in presumed late-onset cobalamin C disease.
Arch Neurol,
60(10):1457-62,
2003.
Note: Clinical TrialJournal ArticleUnited States.
[WWW]
Keyword(s): Adolescent,
Adult,
Brain/pathology,
Cobamides/metabolism,
Female,
Fibroblasts/metabolism,
Homocysteine/blood/urine,
Humans,
Mental Disorders/*etiology/pathology/*psychology,
Metabolism,
Inborn Errors/complications/metabolism/*psychology,
Methylmalonic Acid/blood/urine,
Nervous System Diseases/*etiology/pathology/*psychology,
Sural Nerve/pathology,
Vitamin B 12/*analogs & derivatives/*metabolism.
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Last modified: Thu May 6 18:23:31 2010
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