Search Results - "Foley, A.R."

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.373The NIH-NNDCS/CMG integrated clinico-genomic approach to undiagnosed pediatric neuromuscular patients in the NGS era.

Authors: Donkervoort, S. Foley, A.R. Saade, D. et al.

Source: Neuromuscular Disorders. Oct2018:Supplement 2, Vol. 28, pS142-S142. 1p.

CONGENITAL MUSCULAR DYSTROPHIES: P.329CALLISTO: a phase I open-label, sequential group, cohort study of pharmacokinetics and safety of omigapil in LAMA2 and COL6-related dystrophy patients.

Authors: Foley, A.R. Leach, M. Averion, G. et al.

Source: Neuromuscular Disorders. Oct2018:Supplement 2, Vol. 28, pS129-S130. 1p.

CONGENITAL MUSCULAR DYSTROPHIES: P.330Long-term motor function in collagen VI-related myopathies is associated with the maximal motor ability achieved: a classification proposal.

Authors: Natera-de Benito, D. Foley, A.R. Diaz-Manera, J. et al.

Source: Neuromuscular Disorders. Oct2018:Supplement 2, Vol. 28, pS130-S130. 1p.

P1.11 Large genomic deletions as a novel type of mutation in Ullrich CMD

Authors: Foley, A.R. Hu, Y. Zou, Y. et al.

Source: Neuromuscular Disorders. Oct2010, Vol. 20 Issue 9/10, p602-603. 2p.

G.P.248: Clinical trial readiness of paediatric neuromuscular patients in Ireland.

Authors: Foley, A.R. Coman, C. Tobin, A. et al.

Source: Neuromuscular Disorders. Oct2014, Vol. 24 Issue 9/10, p891-891. 1p.

G.P.17 Getting to the core of the matter: Cores as a common muscle pathology finding in the collagen VI-related myopathies

Authors: Foley, A.R. Phadke, R. Feng, L. et al.

Source: Neuromuscular Disorders. Oct2012, Vol. 22 Issue 9/10, p827-827. 1p.

P78 Getting to the core of the matter: cores as a common muscle pathology finding in the collagen VI-related myopathies

Authors: Foley, A.R. Phadke, R. Feng, L. et al.

Source: Neuromuscular Disorders. Mar2012 Supplement, Vol. 22 Issue s1, pS28-S29. 0p.

O03 High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement

Authors: Foley, A.R. Broomfield, A.A. Pandraud, A. et al.

Source: Neuromuscular Disorders. Mar2012 Supplement, Vol. 22 Issue s1, pS4-S4. 1p.

P2.5 The identification of a viable outcome measure in the collagen VI myopathies promotes progress toward clinical trials

Authors: Foley, A.R. Quijano-Roy, S. Collins, J. et al.

Source: Neuromuscular Disorders. Oct2011, Vol. 21 Issue 9/10, p662-662. 1p.

EM.P.4.06 Autosomal recessive inheritance of classic Bethlem myopathy

Authors: Foley, A.R. Shoffner, J. Weiss, R. et al.

Source: Neuromuscular Disorders. Sep2009, Vol. 19 Issue 8/9, p608-608. 1p.

EM.P.4.01 Collagen VI related myopathies: Exploring the phenotypic spectrum

Authors: Foley, A.R. Columbus, A. Schlessl, J. et al.

Source: Neuromuscular Disorders. Sep2009, Vol. 19 Issue 8/9, p606-606. 1p.

Flow cytometry analysis: A quantitative method for collagen VI deficiency screening

Authors: Kim, J. Jimenez-Mallebrera, C. Foley, A.R. et al.

Source: Neuromuscular Disorders. Feb2012, Vol. 22 Issue 2, p139-148. 10p.

Community mental health center: an analysis of existing models.

Authors: Glasscote, R.M. Sanders, D.S. Forstenzer, H.M. et al.

Source: Community mental health center: an analysis of existing models. 01/01/1964.

P.3.10 An unusual double trouble of coexisting distal myopathy and distal motor neuropathy uncovered by exome sequencing.

Authors: Cirak, S. Whyte, T. Foley, A.R. et al.

Source: Neuromuscular Disorders. Oct2013, Vol. 23 Issue 9/10, p758-758. 1p.

P65 Whole genome analysis in a family with dominant muscle disease

Authors: Pitceathly, R.D.S. He, J. Foley, A.R. et al.

Source: Neuromuscular Disorders. Mar2011 Supplement 1, Vol. 21, pS25-S25. 1p.

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

Authors: Pane, M. Messina, S. Vasco, G. et al.

Source: Neuromuscular Disorders. Aug2012, Vol. 22 Issue 8, p685-689. 5p.

CMT AND NEUROGENIC DISEASE: P.337Giant axonal neuropathy presenting as CMT2: results from the NIH natural history study.

Authors: Saade, D. Bharucha-Goebel, D. Norato, G. et al.

Source: Neuromuscular Disorders. Oct2018:Supplement 2, Vol. 28, pS132-S132. 1p.

CONGENITAL MUSCULAR DYSTROPHIES: P.332Dynamic breathing MRI: A promising biomarker of diaphragmatic function in COL6-related dystrophy patients and LAMA2-related dystrophy patients.

Authors: Yun, P. Norato, G. Hsieh, N. et al.

Source: Neuromuscular Disorders. Oct2018:Supplement 2, Vol. 28, pS130-S131. 1p.

CONGENITAL MUSCULAR DYSTROPHIES: P.326Minimal clinically important difference for the Motor Function Measure in patients with congenital muscular dystrophy and congenital myopathy.

Authors: Goff, L. Le Fink, M. Norato, G. et al.

Source: Neuromuscular Disorders. Oct2018:Supplement 2, Vol. 28, pS129-S129. 1p.

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES: P.242Neonatal presentations of recessive TTN-related myopathy: an emerging distinct clinical phenotype.

Authors: Neuhaus, S. Donkervoort, S. Leach, M. et al.

Source: Neuromuscular Disorders. Oct2018:Supplement 2, Vol. 28, pS105-S105. 1p.