Abstract

We are requesting support for a Clinical Core Unit to coordinate the acquisition of crucially needed tissue specimens (blood samples, muscle biopsies, skin and muscle cultures, postmortem brain) from patients with the rara disorders studies in the three projects. This Core takes advantage of one of the great strengths of the Center, which has been for many years a major referral center for the diagnosis of neuromuscular disorders, especially mitochondrial encephalomyopathies. Investigators in the Clinical Core will participate in the identification of patients, their accurate clinical and scientific workup, and in the collection of adequate samples. Partial salary support is requested for the Core Director and for a Technical Assistant. Technical needs include service contracts for some instruments used in the diagnostic workup of patients and for liquid nitrogen.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Program Projects (P01)
Project #
5P01NS011766-24
Application #
6112073
Study Section
Project Start
1998-12-01
Project End
1999-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
24
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
Columbia University (N.Y.)
Department
Type
DUNS #
167204994
City
New York
State
NY
Country
United States
Zip Code
10032

  Publications

Akman, H Orhan; Aykit, Yavuz; Amuk, Ozge Ceren et al. (2016) Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. Neuromuscul Disord 26:16-20
Quinzii, Catarina M; Hirano, Michio; DiMauro, Salvatore (2014) Mutant COQ2 in multiple-system atrophy. N Engl J Med 371:81-2
Cámara, Yolanda; González-Vioque, Emiliano; Scarpelli, Mauro et al. (2014) Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome. Hum Mol Genet 23:2459-67
Li, Wei; Gigante, Alba; Perez-Perez, Maria-Jesus et al. (2014) Thymidine phosphorylase participates in platelet signaling and promotes thrombosis. Circ Res 115:997-1006
Vara, Dina S; Campanella, Michelangelo; Canobbio, Ilaria et al. (2013) Autocrine amplification of integrin ?IIb?3 activation and platelet adhesive responses by deoxyribose-1-phosphate. Thromb Haemost 109:1108-19
Pfeffer, Gerald; Horvath, Rita; Klopstock, Thomas et al. (2013) New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol 9:474-81
Martí, Ramon; López, Luis C; Hirano, Michio (2012) Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. Methods Mol Biol 837:121-33
Martí, Ramon; Dorado, Beatriz; Hirano, Michio (2012) Measurement of mitochondrial dNTP pools. Methods Mol Biol 837:135-48
Suomalainen, Anu; Elo, Jenni M; Pietiläinen, Kirsi H et al. (2011) FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurol 10:806-18
Garone, Caterina; Tadesse, Saba; Hirano, Michio (2011) Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain 134:3326-32

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