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Your search keyword '"Sue, Carolyn M."' showing total 34 results
Start Over Author "Sue, Carolyn M." Publisher oxford university press
34 results on '"Sue, Carolyn M."'

7. Huntington Disease

Author

Kumar, Kishore R., primary, Sue, Carolyn M., additional, Münchau, Alexander, additional, and Klein, Christine, additional

Published
2014
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14. Sialidosis

Author

Kumar, Kishore R., primary, Sue, Carolyn M., additional, Münchau, Alexander, additional, and Klein, Christine, additional

Published
2014
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21. Paroxysmal Dyskinesia

Author

Kumar, Kishore R., primary, Sue, Carolyn M., additional, Münchau, Alexander, additional, and Klein, Christine, additional

Published
2014
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23. Friedreich Ataxia

Author

Kumar, Kishore R., primary, Sue, Carolyn M., additional, Münchau, Alexander, additional, and Klein, Christine, additional

Published
2014
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24. Myoclonus-Dystonia

Author

Kumar, Kishore R., primary, Sue, Carolyn M., additional, Münchau, Alexander, additional, and Klein, Christine, additional

Published
2014
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27. The Dystrophinopathies

Author

Kumar, Kishore R., primary, Sue, Carolyn M., additional, Münchau, Alexander, additional, and Klein, Christine, additional

Published
2014
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29. Early-Onset Dystonia

Author

Kumar, Kishore R., primary, Sue, Carolyn M., additional, Münchau, Alexander, additional, and Klein, Christine, additional

Published
2014
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32. Neurogenetics

Author

Kumar, Kishore R., primary, Sue, Carolyn M., additional, Münchau, Alexander, additional, and Klein, Christine, additional

Published
2014
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33. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

Author

Halter JP, Michael W, Schüpbach M, Mandel H, Casali C, Orchard K, Collin M, Valcarcel D, Rovelli A, Filosto M, Dotti MT, Marotta G, Pintos G, Barba P, Accarino A, Ferra C, Illa I, Beguin Y, Bakker JA, Boelens JJ, de Coo IF, Fay K, Sue CM, Nachbaur D, Zoller H, Sobreira C, Pinto Simoes B, Hammans SR, Savage D, Martí R, Chinnery PF, Elhasid R, Gratwohl A, and Hirano M

Subjects
Adolescent, Adult, Body Weight, Brain pathology, Child, Female, Follow-Up Studies, Humans, Magnetic Resonance Imaging, Male, Muscular Dystrophy, Oculopharyngeal, Neural Conduction physiology, Neurologic Examination, Neutrophils, Ophthalmoplegia congenital, Retrospective Studies, Survival Analysis, Thymidine Phosphorylase metabolism, Transplantation, Homologous methods, Young Adult, Hematopoietic Stem Cell Transplantation methods, Intestinal Pseudo-Obstruction surgery, Mitochondrial Encephalomyopathies surgery, Treatment Outcome
Abstract

Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency. We conducted a retrospective analysis of all known patients suffering from mitochondrial neurogastrointestinal encephalomyopathy who underwent allogeneic haematopoietic stem cell transplantation between 2005 and 2011. Twenty-four patients, 11 males and 13 females, median age 25 years (range 10-41 years) treated with haematopoietic stem cell transplantation from related (n = 9) or unrelated donors (n = 15) in 15 institutions worldwide were analysed for outcome and its associated factors. Overall, 9 of 24 patients (37.5%) were alive at last follow-up with a median follow-up of these surviving patients of 1430 days. Deaths were attributed to transplant in nine (including two after a second transplant due to graft failure), and to mitochondrial neurogastrointestinal encephalomyopathy in six patients. Thymidine phosphorylase activity rose from undetectable to normal levels (median 697 nmol/h/mg protein, range 262-1285) in all survivors. Seven patients (29%) who were engrafted and living more than 2 years after transplantation, showed improvement of body mass index, gastrointestinal manifestations, and peripheral neuropathy. Univariate statistical analysis demonstrated that survival was associated with two defined pre-transplant characteristics: human leukocyte antigen match (10/10 versus <10/10) and disease characteristics (liver disease, history of gastrointestinal pseudo-obstruction or both). Allogeneic haematopoietic stem cell transplantation can restore thymidine phosphorylase enzyme function in patients with mitochondrial neurogastrointestinal encephalomyopathy and improve clinical manifestations of mitochondrial neurogastrointestinal encephalomyopathy in the long term. Allogeneic haematopoietic stem cell transplantation should be considered for selected patients with an optimal donor., (© The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

Published
2015
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34. Expanding the phenotype of GMPPB mutations.

Author

Cabrera-Serrano M, Ghaoui R, Ravenscroft G, Johnsen RD, Davis MR, Corbett A, Reddel S, Sue CM, Liang C, Waddell LB, Kaur S, Lek M, North KN, MacArthur DG, Lamont PJ, Clarke NF, and Laing NG

Subjects
Adolescent, Adult, Aged, Child, Child, Preschool, Dystroglycans genetics, Fatal Outcome, Female, Humans, Male, Middle Aged, Pedigree, Young Adult, Muscular Dystrophies, Limb-Girdle diagnosis, Muscular Dystrophies, Limb-Girdle genetics, Mutation genetics, Nucleotidyltransferases genetics, Phenotype
Abstract

Dystroglycanopathies are a heterogeneous group of diseases with a broad phenotypic spectrum ranging from severe disorders with congenital muscle weakness, eye and brain structural abnormalities and intellectual delay to adult-onset limb-girdle muscular dystrophies without mental retardation. Most frequently the disease onset is congenital or during childhood. The exception is FKRP mutations, in which adult onset is a common presentation. Here we report eight patients from five non-consanguineous families where next generation sequencing identified mutations in the GMPPB gene. Six patients presented as an adult or adolescent-onset limb-girdle muscular dystrophy, one presented with isolated episodes of rhabdomyolysis, and one as a congenital muscular dystrophy. This report expands the phenotypic spectrum of GMPPB mutations to include limb-girdle muscular dystrophies with adult onset with or without intellectual disability, or isolated rhabdomyolysis., (© The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

Published
2015
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