Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

Author： Zanni Ginevra   Scotton Chiara   Passarelli Chiara   Fang Mingyan   Barresi Sabina   Dallapiccola Bruno   Wu Bin   Gualandi Francesca   Ferlini Alessandra   Bertini E.   Wei Wang  

Publisher： Springer Publishing Company

ISSN： 1364-6745

Source： Neurogenetics, Vol.14, Iss.3-4, 2013-11, pp. : 247-250

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Related content

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

By Biancheri Roberta   Cassandrini Denise   Pinto Francesca   Trovato Rosanna   Di Rocco Maja   Mirabelli-Badenier Marisol   Pedemonte Marina   Panicucci Chiara   Trucks Holger   Sander Thomas   Zara Federico   Rossi Andrea   Striano Pasquale   Minetti Carlo   Santorelli Filippo  

Journal of Neurology, Vol. 260, Iss. 7, 2013-07 ,pp. : 1866-1870

Springer Publishing Company

Access to resources Recommend Favorite

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

By Gerards Mike  

Brain, Vol. 136, Iss. 3, 2013-03 ,pp. : 882-890

Oxford University Press

Access to resources Recommend Favorite

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

By Ohba Chihiro   Osaka Hitoshi   Iai Mizue   Yamashita Sumimasa   Suzuki Yume   Aida Noriko   Shimozawa Nobuyuki   Takamura Ayumi   Doi Hiroshi   Tomita-Katsumoto Atsuko   Nishiyama Kiyomi   Tsurusaki Yoshinori   Nakashima Mitsuko   Miyake Noriko   Eto Yoshikatsu   Tanaka Fumiaki   Matsumoto Naomichi   Saitsu Hirotomo  

Neurogenetics, Vol. 14, Iss. 3-4, 2013-11 ,pp. : 225-232

Springer Publishing Company

Access to resources Recommend Favorite

A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion

By Kasuga Kensaku   Konno Takuya   Saito Kento   Ishihara Ayako   Nishizawa Masatoyo   Ikeuchi Takeshi  

Journal of Neurology, Vol. 261, Iss. 1, 2014-01 ,pp. : 242-244

Springer Publishing Company

Access to resources Recommend Favorite

Late-onset frontotemporal dementia associated with a novel PGRN mutation

By Lladó A.   Sánchez-Valle R.   Reñé R.   Ezquerra M.   Rey M. J.   Tolosa E.   Ferrer I.   Molinuevo J. L.  

Journal of Neural Transmission, Vol. 114, Iss. 8, 2007-08 ,pp. : 1051-1054

Springer Publishing Company

Access to resources Recommend Favorite