POLR3A variants with striatal involvement and extrapyramidal movement disorder
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I. Harting | P. Pouwels | I. Krägeloh-Mann | M. Hempel | U. Moog | M. S. van der Knaap | G. Bernard | M. Vreeburg | N. Wolf | A. Pujol | A. Bley | A. Rodríguez-Palmero | S. Karch | T. Bierhals | R. V. van Spaendonk | R. Huntsman | M. Al-Saady
[1] E. Bertini,et al. Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants , 2019, Neurology. Genetics.
[2] Libing Zhou,et al. Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report , 2019, BMC Pediatrics.
[3] P. Sowa,et al. Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis , 2019, Brain : a journal of neurology.
[4] A. Vanderver,et al. Dystonia in RNA Polymerase III‐Related Leukodystrophy , 2019, Movement disorders clinical practice.
[5] C. López-Otín,et al. Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome , 2018, Journal of Medical Genetics.
[6] Vishal Vishnu Tewari,et al. A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report , 2018, BMC Pediatrics.
[7] Neil A. Miller,et al. POLR3A variants in hereditary spastic paraplegia and ataxia. , 2018, Brain : a journal of neurology.
[8] R. Hennekam,et al. Wiedemann–Rautenstrauch syndrome: A phenotype analysis , 2017, American journal of medical genetics. Part A.
[9] K. Amunts,et al. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia , 2017, Brain : a journal of neurology.
[10] K. Yeom,et al. Brain Perfusion and Diffusion Abnormalities in Children Treated for Posterior Fossa Brain Tumors , 2017, The Journal of pediatrics.
[11] Inga,et al. 1 4 H leukodystrophy : a brain MRI scoring system , 2017 .
[12] A. Vanderver,et al. 4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System. , 2017, Neuropediatrics.
[13] Stefan J. Siira,et al. Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement. , 2016, Human molecular genetics.
[14] Seong-Min Choi,et al. Movement Disorders Following Cerebrovascular Lesions in Cerebellar Circuits , 2016, Journal of movement disorders.
[15] A. Vanderver,et al. Diffuse hypomyelination is not obligate for POLR3-related disorders , 2016, Neurology.
[16] G. Bernard,et al. Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts , 2015, Clinical Neuroradiology.
[17] J. Yates,et al. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III , 2015, Nature Communications.
[18] S. Yoganathan,et al. Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism (4H) Syndrome With Vertebral Anomalies , 2015, Journal of child neurology.
[19] A. Vanderver,et al. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations , 2014, Neurology.
[20] K. Sakamoto,et al. Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III , 2012, Journal of the Neurological Sciences.
[21] A. Vanderver,et al. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. , 2011, American journal of human genetics.
[22] N. Matsumoto,et al. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. , 2011, American journal of human genetics.
[23] A. Vanderver,et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. , 2011, American journal of human genetics.
[24] Frederik Barkhof,et al. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. , 2010, Brain : a journal of neurology.
[25] A. Hart,et al. Childhood white matter disorders: quantitative MR imaging and spectroscopy. , 2006, Radiology.
[26] M. Kaste,et al. Diffusion-weighted MR imaging in normal human brains in various age groups. , 2002, AJNR. American journal of neuroradiology.