S
Stirling Carpenter
Researcher at Montreal Neurological Institute and Hospital
Publications - 152
Citations - 11979
Stirling Carpenter is an academic researcher from Montreal Neurological Institute and Hospital. The author has contributed to research in topics: Myopathy & Skeletal muscle. The author has an hindex of 55, co-authored 152 publications receiving 11660 citations. Previous affiliations of Stirling Carpenter include University of Toronto & McGill University.
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Journal ArticleDOI
Neurologic Sequelae of Domoic Acid Intoxication Due to the Ingestion of Contaminated Mussels
Jeanne Teitelbaum,Robert J. Zatorre,Stirling Carpenter,Daniel Gendron,Alan C. Evans,Albert Gjedde,Neil R. Cashman +6 more
TL;DR: It is concluded that intoxication with domoic acid causes a novel and distinct clinicopathologic syndrome characterized initially by widespread neurologic dysfunction and then by chronic residual memory deficits and motor neuronopathy or axonopathy.
Journal ArticleDOI
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
Berge A. Minassian,R. Lee Jeffrey,Jo Anne Herbrick,Jack J. Huizenga,Sylvia Soder,Andrew J. Mungall,Ian Dunham,R. J. Gardner,Chung Yan G. Fong,Stirling Carpenter,Laura Bannach Jardim,P. Satishchandra,Eva Andermann,O. Carter Snead,Iscia Lopes-Cendes,Lap-Chee Tsui,Antonio V. Delgado-Escueta,Guy A. Rouleau,Stephen W. Scherer +18 more
TL;DR: A novel gene, EPM2A, is identified at chromosome 6q24 that encodes a protein with consensus amino acid sequence indicative of a protein tyrosine phosphatase (PTP) that is predicted to cause deleterious effects in the putative protein product, named laforin, resulting in Lafora's disease.
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Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
Katherine R. Smith,Katherine R. Smith,John A. Damiano,Silvana Franceschetti,Stirling Carpenter,Laura Canafoglia,Michela Morbin,Giacomina Rossi,Davide Pareyson,Sara E. Mole,John F. Staropoli,Katherine B. Sims,Jada Lewis,Wen Lang Lin,Dennis W. Dickson,Hans Henrik M. Dahl,Melanie Bahlo,Melanie Bahlo,Samuel F. Berkovic +18 more
TL;DR: An unanticipated link between a rare and a common neurological disorder is revealed and the pleiotropic effects of a mutation in the heterozygous or homozygous states are illustrated.
Journal ArticleDOI
The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features.
George Karpati,Stirling Carpenter,Andrew G. Engel,Gordon V. Watters,Jeffrey C. Allen,Stanley Rothman,Gerald A. Klassen,Orval A. Mamer +7 more
TL;DR: Ketogenesis was impaired on a high fat diet, but omega oxidation of fatty acids was enhanced, and oral replacement therapy restored plasma carnitine levels to normal, but not liver or muscle carnite levels, and was accompanied by clinical improvement.
Journal ArticleDOI
Proximal axonal enlargement in motor neuron disease.
TL;DR: A histological phenomenon which may be seen in certain cases of motor neuron disease, namely focal enlargement of axons of cells in the anterior horns of the spinal cord and in the somatic motor nuclei of the brainstem is drawn attention.