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L Brady

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Articles 83
Citations 891
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Recent Articles
1.
Sheill G, Guinan E, Brady L, Hevey D, Hussey J
Palliat Support Care . 2019 May; 17(6):686-696. PMID: 31109383
Purpose: Patients with advanced cancer can experience debilitating physical symptoms, making participation in exercise programs difficult. This systematic review investigated the recruitment, adherence, and attrition rates of patients with advanced...
2.
Sidhu M, Brady L, Vladutiu G, Tarnopolsky M
Mol Genet Metab Rep . 2018 Oct; 17:53-55. PMID: 30310767
Pathogenic variants in the gene are associated with glycogen storage disease type X (GSDX) and is characterized by exercise induced muscle cramping, weakness, myoglobinuria, and often tubular aggregates in skeletal...
3.
Hartley T, Wagner J, Warman-Chardon J, Tetreault M, Brady L, Baker S, et al.
Clin Genet . 2017 Jul; 93(2):301-309. PMID: 28708278
The inherited peripheral neuropathies (IPNs) are characterized by marked clinical and genetic heterogeneity and include relatively frequent presentations such as Charcot-Marie-Tooth disease and hereditary motor neuropathy, as well as more...
4.
Brown D, Lanciano R, Heal C, Hanlon A, Yang J, Feng J, et al.
J Radiat Oncol . 2017 Apr; 6(1):31-37. PMID: 28367276
Objective: The objective of the present study is to analyze prognostic factors affecting survival of patients receiving stereotactic radiosurgery (SRS) for second brain metastatic event (SBME) following initial treatment with...
5.
OSullivan J, Aguila S, McRae E, Ward S, Rawley O, Fallon P, et al.
J Thromb Haemost . 2016 Oct; 14(12):2446-2457. PMID: 27732771
Essentials von Willebrands factor (VWF) glycosylation plays a key role in modulating in vivo clearance. VWF glycoforms were used to examine the role of specific glycan moieties in regulating clearance....
6.
Brady L, Giri M, Provias J, Hoffman E, Tarnopolsky M
Neuromuscul Disord . 2016 Jan; 26(2):160-4. PMID: 26782016
We recently evaluated two of the original three patients (siblings) diagnosed with Proximal Myopathy with Focal Depletion of Mitochondria. The condition was named for the distinctive pattern of enlarged mitochondria...
7.
Tarnopolsky M, Hoffman E, Giri M, Shoffner J, Brady L
Neuromuscul Disord . 2015 Oct; 25(12):952-4. PMID: 26453141
Two patients with exercise-induced myalgias and rhabdomyolysis with myoglobinuria were evaluated with muscle biopsy and comprehensive myopathy next generation sequencing (NGS) gene panels. Genetic analysis revealed homozygosity for two known...
8.
Tan C, Topper S, Del Gaudio D, Nelakuditi V, Shchelochkov O, Nowaczyk M, et al.
Clin Genet . 2015 Feb; 89(4):478-483. PMID: 25693842
Genetic testing for non-specific intellectual disability (ID) presents challenges in daily clinical practice. Historically, the focus of the genetic elucidation of non-specific ID has been on genes on the X...
9.
Brady L
An Cir (B Aires) . 2010 Oct; 4:527-38. PMID: 21013136
No abstract available.
10.
Brady L
Urol Cutaneous Rev . 2010 Oct; 49:599-602. PMID: 21006780
No abstract available.