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Jean-Marie Girard

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Citations 363
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Recent Articles
1.
Nitschke F, Wang P, Schmieder P, Girard J, Awrey D, Wang T, et al.
Cell Metab . 2013 May; 17(5):756-67. PMID: 23663739
Laforin or malin deficiency causes Lafora disease, characterized by altered glycogen metabolism and teenage-onset neurodegeneration with intractable and invariably fatal epilepsy. Plant starches possess small amounts of metabolically essential monophosphate...
2.
Girard J, Turnbull J, Ramachandran N, Minassian B
Handb Clin Neurol . 2013 Apr; 113:1731-6. PMID: 23622396
The progressive myoclonus epilepsies (PMEs) consist of a group of diseases with myoclonic seizures and progressive neurodegeneration, with onset in childhood and/or adolescence. Lafora disease is a neuronal glycogenosis in...
3.
Turnbull J, Girard J, Lohi H, Chan E, Wang P, Tiberia E, et al.
Brain . 2012 Sep; 135(Pt 9):2684-98. PMID: 22961547
The most common progressive myoclonus epilepsies are the late infantile and late infantile-variant neuronal ceroid lipofuscinoses (onset before the age of 6 years), Unverricht-Lundborg disease (onset after the age of...
4.
Girard J, Stone S, Lohi H, Blaszykowski C, Teixeira C, Turnbull J, et al.
Neurology . 2012 May; 79(1):100-2. PMID: 22622857
No abstract available.
5.
Turnbull J, Wang P, Girard J, Ruggieri A, Wang T, Draginov A, et al.
Ann Neurol . 2010 Nov; 68(6):925-33. PMID: 21077101
Objective: Glycogen, the largest cytosolic macromolecule, acquires solubility, essential to its function, through extreme branching. Lafora bodies are aggregates of polyglucosan, a long, linear, poorly branched, and insoluble form of...
6.
Striano P, Ackerley C, Cervasio M, Girard J, Turnbull J, Del Basso-De Caro M, et al.
Brain Pathol . 2009 Sep; 19(4):727-30. PMID: 19744044
A 22-year-old girl presented with convulsive status epilepticus and a previous history of recurrent seizures, myoclonus, ataxia and impaired cognitive functions. Neurological examination revealed rest and action-induced myoclonus, pyramidal signs...
7.
Ramachandran N, Girard J, Turnbull J, Minassian B
Epilepsia . 2009 May; 50 Suppl 5:29-36. PMID: 19469843
Autosomal recessively inherited progressive myoclonus epilepsies (PMEs) include Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis (cherry-red spot myoclonus), action myoclonus-renal failure syndrome, and type III Gaucher...
8.
Jacquet E, Girard J, Ramaen O, Pamlard O, Levaique H, Betton J, et al.
J Biol Chem . 2008 Jun; 283(37):25332-25339. PMID: 18562322
In Gram-positive bacteria, a large subfamily of dual ATP-binding cassette proteins confers acquired or intrinsic resistance to macrolide, lincosamide, and streptogramin antibiotics by a far from well understood mechanism. Here,...
9.
Striano P, Zara F, Turnbull J, Girard J, Ackerley C, Cervasio M, et al.
Nat Clin Pract Neurol . 2008 Feb; 4(2):106-11. PMID: 18256682
Background: A 20-year-old woman presented to a specialist epilepsy center with a 3-year history of drug-resistant epileptic seizures, progressive myoclonus, ataxia, and cognitive decline. Investigations: Neurological examination, neuropsychological testing, electrophysiological...
10.
Tagliabracci V, Turnbull J, Wang W, Girard J, Zhao X, Skurat A, et al.
Proc Natl Acad Sci U S A . 2007 Nov; 104(49):19262-6. PMID: 18040046
Lafora disease is a progressive myoclonus epilepsy with onset typically in the second decade of life and death within 10 years. Lafora bodies, deposits of abnormally branched, insoluble glycogen-like polymers,...