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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Cortese A, Zhu Y, Rebelo AP, et al.
Nature genetics, 2020, 52, 5, p 473
Une fondation pour la Recherche - Axel Khan "Développer le mécénat"
Delhon L, Khan A
Etre - Handicap information, 2017, 150, p. 78_79
Inflammatory myopathy associated with antimitochondrial antibodies: A distinct phenotype with cardiac involvement
Albayda J, Khan A, Casciola-Rosen L, et al.
Seminars in arthritis and rheumatism, 2017
Side alternating vibration training in patients with mitochondrial disease: a pilot study
Newell C, Ramage B, Robu I, et al.
Archives of physiotherapy, 2017, 7
Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel
Tarnopolsky M, Katzberg H, Petrof BJ, et al.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 2016, 43, 4, p 472
Vibration therapy tolerated in children with Duchenne muscular dystrophy : a pilot study
Myers KA, Ramage B, Khan A, et al.
Pediatric neurology, 2014, 51, 1, p 126
ANO5 gene analysis in a large cohort of patients with anoctaminopathy : confirmation of male prevalence and high occurrence of the common exon 5 gene mutation
Sarkozy A, Hicks D, Hudson J, et al.
Human mutation, 2013, 34, 8, p. 1111-1118
Reducing Selection Bias in Case-Control Studies from Rare Disease Registries
Cole JA, Taylor JS, Hangartner TN, et al.
Orphanet journal of rare diseases, 2011, 6 (1), 61, p. 1-7
Side-alternating vibration training improves muscle performance in a patient with late-onset pompe disease
Khan A, Ramage B, Robu I, et al.
Case reports in medicine, 2009, 2009, 741087, p. 1-4
Congenital muscle fiber-type disproportion in a patient with congenital central hypoventilation syndrome due to PHOX2B mutations
Khan A, Sarnat HB, Spaetgens R
Journal of child neurology, 2008, 23, 7, p. 829-831
PTC124 targets genetic disorders caused by nonsense mutations
Welch EM, Barton ER, Zhuo J, et al.
Nature, 2007, 447, 7140, p. 87-91
