1 | HINT1, 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 | |
2 | HINT1, 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 | |
3 | HINT1, 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 | |
4 | HINT1, 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 | |
5 | HINT1, 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 | |