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Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12 [PDF]
Human Mutation, 2013 We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in C19orf12, a gene recently ...
Guida Landouré +2 more
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Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation
Neurocase, 2021Aida M Bertoli-Avella +2 more
exaly
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation
Parkinsonism and Related Disorders, 2015Mónica Gagliardi +2 more
exaly
Are some C19orf12 variants monoallelic for neurological disorders?
Parkinsonism and Related Disorders, 2019Henry Houlden, Sadaf Naz
exaly
PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation
Movement Disorders, 2013Mitra Ansari Dezfouli +2 more
exaly
A de novo C19orf12 heterozygous mutation in a patient with MPAN
Parkinsonism and Related Disorders, 2018Edoardo Monfrini +2 more
exaly
C19orf12 gene mutation with neuropsychiatric symptoms: a case report
NeurocaseNazife Gamze Usta Saglam, Senol Turan
exaly