Work From the MGH Nerve Unit
MA Kelley, AL Oaklander.
Canadian Journal of Pain. 2020 February.
Scientific Advances in and Clinical Approaches to Small-Fiber Polyneuropathy: A Review.
AL Oaklander, M Nolano.
JAMA Neurol. 2019 Sep 9.
Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.
V Fridman, S Suriyanarayanan, P Novak, W David, EA Macklin, D McKenna-Yasek, K Walsh, R Aziz-Bose, AL Oaklander, R Brown, T Hornemann, F Eichler.
Neurology. 2019 Jan 22;92(4):e359-e370.
Ion channels and neuropathic pain.
MC Klein, AL Oaklander.
Elife. 2018 Nov 26;7. pii: e42849.
Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.
E Morini, P Dietrich, M Salani, HM Downs, GR Wojtkiewicz, S Alli, A Brenner, M Nilbratt, JW LeClair, AL Oaklander, SA Slaugenhaupt, I Dragatsis.
Hum Mol Genet. 2016 Mar 15;25(6):1116-28.
Natural history and biomarkers in hereditary sensory neuropathy type 1.
V Fridman, AL Oaklander, WS David, EA Johnson, J Pan, P Novak, RH Brown Jr, FS Eichler.
Muscle Nerve. 2015 Apr;51(4):489-95.
Work From the Zuchner Lab, University of Miami
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesCortese A, Zhu Y, Rebelo AP, et al.
Nat Genet. 2020 52(5):473-481.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Farazi Fard MA, Rebelo AP, Buglo E, et al.
Am J Hum Genet. 2019 104(4):767-773.
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Cortese A, Simone R, Sullivan R, et al.
Nat Genet. 2019 51(4):649-658.
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiencyRebelo AP, Saade D, Pereira CV, et al.
Brain 2019 141(3):662-672.