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44 citation(s) found for "Atwal, Paldeep S".

Early‐onset limb‐girdle muscular dystrophy‐2L in a female athlete
Blackburn, Patrick R. , Selcen, Duygu , Jackson, Jessica L. , Guthrie, Kimberly J., Cousin, Margot A. , Boczek, Nicole J. , Clift, Kristin , Klee, Eric W. , Dimberg, Elliot L., Clift, Kristin E, Atwal, Paldeep S. , Atwal, Paldeep S , Clift, Kristin E

Mayo Clinic

Muscle & Nerve | November 16, 2016 | Volume: 55 | Issue: 5 | Pages: No page available

10.1002/mus.25471 | PMID 27862037 Get It

A Case of Two Repeats: Huntington's Disease and Spinocerebellar Ataxia Type 8
Gass, Jennifer , McKay, Jake H., Guthrie, Kimberly J., Boczek, Nicole J. , Gerpen, Jay Van, Gass, Jennifer M, McKay, Jake, Boczek, Nicole, Atwal, Paldeep S. , Van Gerpen, Jay, Atwal, Paldeep S , Gerpen, Jay A. van

Mayo Clinic

Movement Disorders Clinical Practice | July 23, 2016 | Volume: 4 | Issue: 2 | Pages: 270-272

10.1002/mdc3.12401 | PMID 30838266 Get It

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Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma
Blackburn, Patrick R. , Nace, Rebecca A., Giama, Nasra H., Kraft, Daniel, Bordner, Andrew J., Graham, Rondell P. , Tortorelli, Silvia , Lindor, Noralane M. , Milliner, Dawn S. , Oglesbee, Devin , Al-Qabandi, Wafa’a, Grompe, Markus , Gavrilov, Dimitar K. , El‐Youssef, Mounif, Clark, Karl J. , Roberts, Lewis R. , Klee, Eric W. , Ekker, Stephen C. , Hickey, Raymond D, Kraft, Daniel L, McCormick, Jennifer B, Radulovic, Maja, El-Youssef, Mounif, Atwal, Paldeep S. , Hickey, Raymond , Chaiteerakij, Roongruedee , McCormick, Jennifer Blair , Radulovic, Maja , Torbenson, Michael , Scott, C. Ronald , Atwal, Paldeep S , Roberts, Lewis R , Ekker, Stephen C , Clark, Karl J , Graham, Rondell P , Oglesbee, Devin

Mayo Clinic

Human Mutation | July 11, 2016 | Volume: 37 | Issue: 10 | Pages: 1097-1105

10.1002/humu.23047 | PMID 27397503 Get It

Novel X‐linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R
Blease, Sophie, Braxton, Alicia, Graves, Julia, He, Weimin , Person, Richard, Slattery, Leah, Bernstein, Jonathan A. , Hudgins, Louanne , Atwal, Paldeep Singh, Atwal, Paldeep S , He, Weimin

Mayo Clinic

American Journal of Medical Genetics Part A | December 21, 2015 | Volume: 170 | Issue: 4 | Pages: 891-895

10.1002/ajmg.a.37491 | PMID 26686323 Get It

Filamin A (FLNA) is known to be involved in intracellular actin binding, cell migration, scaffolding, and signaling. We report a novel X‐linked syndrome characterized by cardiac valvular disease, keloid scarring and reduced joint mobility in male second cousins due to a previously unreported mutation in FLNA. Whole exome sequencing was performed using standard methods and segregation analysis was performed in affected and non‐affected family members. A novel hemizygous c.4726G>A (p.G1576R) mutation in FLNA was detected. Segregation analysis performed on multiple maternal family members showed c.4726G>A (p.G1576R) segregated with disease in an X‐linked inheritance pattern. The findings in these cases are distinct from previously described FLNA related disorders by virtue of decreased joint mobility and spontaneous keloid scarring. They occur in association with a novel mutation and represent a novel genetic syndrome. © 2015 Wiley Periodicals, Inc.