Citations for
1HINT1, NMAN
A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue.
Rauchenzauner M, Frühwirth M, Hecht M, Kofler M, Witsch-Baumgartner M, Fauth C.
Neuropediatrics 47(2):119-22. doi: 10.1055/s-0035-1570493. Epub 2016 Jan 13. 2016
2HINT1, NMAN
A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States.
Jerath NU, Shy ME, Grider T, Gutmann L.
Muscle Nerve 52(6):1110-3. doi: 10.1002/mus.24774. 2015
3HINT1, NMAN
Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia.
Boaretto F, Cacciavillani M, Mostacciuolo ML, Spalletta A, Piscosquito G, Pareyson D, Vazza G, Briani C.
Muscle Nerve 52(4):688-9. doi: 10.1002/mus.24720. Epub 2015 Jul 27. No abstract available. 2015
4HINT1, NMAN
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.
Zhao H, Race V, Matthijs G, De Jonghe P, Robberecht W, Lambrechts D, Van Damme P.
Eur J Hum Genet 22(6):847-50. doi: 10.1038/ejhg.2013.231. Epub 2013 Oct 9. 2014
5HINT1, NMAN
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, Van Damme P, Löscher WN, Barišić N, Mitrovic Z, Previtali SC, Topaloğlu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Züchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A.
Nat Genet 44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9. 2012