Schinzel–Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy

[1]  Christian Gilissen,et al.  De novo mutations of SETBP1 cause Schinzel-Giedion syndrome , 2010, Nature Genetics.

[2]  K. Haginoya,et al.  Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: A functional neuroimaging study , 2010, Epilepsia.

[3]  A. Dufke,et al.  Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel–Giedion syndrome , 2007, Acta Neuropathologica.

[4]  K. Kono,et al.  Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. , 2005, Radiology.

[5]  Z. Patay Diffusion-weighted MR imaging in leukodystrophies , 2005, European Radiology.

[6]  A. Barkovich,et al.  Reversible white matter lesion in methionine adenosyltransferase I/III deficiency. , 2004, AJNR. American journal of neuroradiology.

[7]  G. Morgese,et al.  Schinzel–Giedion syndrome: a further cause of West syndrome , 2003, Brain and Development.

[8]  C. Calli,et al.  van der Knaap's leukoencephalopathy: report of five new cases with emphasis on diffusion-weighted MRI findings , 2002, Neuroradiology.

[9]  H. Dollfus,et al.  Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. , 2002, American journal of medical genetics.

[10]  M. F. Smith,et al.  Schinzel-Giedion syndrome: evidence for a neurodegenerative process. , 1999, American journal of medical genetics.

[11]  R. Shuman,et al.  The neuropathology of the nonketotic and ketotic hyperglycinemias , 1978, Neurology.

[12]  A. Schinzel,et al.  A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. , 1978, American journal of medical genetics.