Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Project (R01)
Project #
2R01NS029525-05A1
Application #
2267684
Study Section
Genome Study Section (GNM)
Project Start
1991-01-01
Project End
1998-11-30
Budget Start
1995-12-08
Budget End
1996-11-30
Support Year
5
Fiscal Year
1996
Total Cost
Indirect Cost
Name
University of Pittsburgh
Department
Genetics
Type
Schools of Medicine
DUNS #
053785812
City
Pittsburgh
State
PA
Country
United States
Zip Code
15213
Punetha, Jaya; Kesari, Akanchha; Hoffman, Eric P et al. (2017) Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects. Muscle Nerve 55:277-281
Willkomm, Lena; Heredia, Raul; Hoffmann, Katrin et al. (2016) Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia. J Hum Genet 61:571-3
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Punetha, Jaya; Mansoor, Simin; Bertorini, Tulio E et al. (2016) Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy. Eur J Hum Genet 24:1511-4
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