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Additional resources for [Journal] Neurology. Vol. 77. No 6
Crimella C, Tonelli A, Airoldi G, et al. The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K. J Med Genet 2010;47:712–716. 10. Claramunt R, Pedrola L, Sevilla T, et al. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 2005;42:358 –365. 11. Chung KW, Kim SM, Sunwoo IN, et al. A novel GDAP1 Q218E mutation in autosomal dominant Charcot-MarieTooth disease.
C. edu ABSTRACT Background: American Academy of Neurology (AAN) practice parameters for amyotrophic lateral sclerosis (ALS) include noninvasive positive pressure ventilation (NIV) for a forced vital capacity (FVC) Յ50% predicted. Despite the limited ability of NIV systems to deliver adequate ventilation synchronous with patient demand, nocturnal patient-ventilator asynchrony has not been systematically studied in patients with ALS prescribed such NIV. Methods: Twenty-three consecutively recruited patients with ALS reporting consistent use of nocturnal NIV (nNIV) prescribed for FVC Յ50% or orthopnea underwent home nocturnal polysomnography (PSG) on their current nNIV regimen (all used bilevel positive airway pressure).
G. Harrington-Moroney: study concept or design, acquisition of data, study supervision. Dr. Shah: study concept or design, acquisition of 554 Neurology 77 August 9, 2011 data, study supervision. Dr. Mitsumoto: study concept or design, contribution of vital reagents/tools/patients, acquisition of data, study supervision. Dr. Basner: drafting/revising the manuscript, study concept or design, analysis or interpretation of data, acquisition of data, statistical analysis, study supervision, obtaining funding.