Pontocerebellar hypoplasia

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[2]. Annette Uwineza, et al. VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report. Eur J Med Genet. 2019 Aug;62(8):103704. [Content Brief]

[3]. Bart Appelhof, et al. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Eur J Hum Genet. 2021 Mar;29(3):411-421. [Content Brief]

[4]. Birgit S Budde, et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet. 2008 Sep;40(9):1113-8. [Content Brief]

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[6]. Ekaterina L Ivanova, et al. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet. 2017 Sep 7;101(3):428-440. [Content Brief]

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[8]. Ganeshwaran H Mochida, et al. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 2012 Nov;44(11):1260-4. [Content Brief]

[9]. Guoliang Chai, et al. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. 2021 Jan 20;109(2):241-256.e9. [Content Brief]

[10]. Marion Coolen, et al. Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation. Am J Hum Genet. 2022 May 5;109(5):909-927. [Content Brief]

[11]. Martin W Breuss, et al. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet. 2016 Jul 7;99(1):228-35. [Content Brief]

[12]. Miora Feinstein, et al. VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). J Med Genet. 2014 May;51(5):303-8. [Content Brief]

[13]. Mustafa Y Ahmed, et al. Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015 Apr 28;84(17):1745-50. [Content Brief]

[14]. Naiara Akizu, et al. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell. 2013 Aug 1;154(3):505-17. [Content Brief]

[15]. Orly Agamy, et al. Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Am J Hum Genet. 2010 Oct 8;87(4):538-44. [Content Brief]

[16]. Paul Renbaum, et al. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet. 2009 Aug;85(2):281-9. [Content Brief]

[17]. Puneeth H Somashekar, et al. Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. Clin Genet. 2021 Apr;99(4):594-600. [Content Brief]

[18]. Rea M Lardelli, et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet. 2017 Mar;49(3):457-464. [Content Brief]

[19]. Roberta Biancheri, et al. EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. J Neurol. 2013 Jul;260(7):1866-70. [Content Brief]

[20]. Simon Edvardson, et al. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet. 2007 Oct;81(4):857-62. [Content Brief]

[21]. Tessa van Dijk, et al. Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. Eur J Hum Genet. 2018 Dec;26(12):1752-1758. [Content Brief]

[22]. Veronika Boczonadi, et al. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nat Commun. 2014 Jul 3;5:4287. [Content Brief]

[23]. Yasmin Namavar, et al. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis. 2011 Jul 12;6:50. [Content Brief]

[24]. Yasmin Namavar, et al. TSEN54 mutations cause pontocerebellar hypoplasia type 5. Eur J Hum Genet. 2011 Jun;19(6):724-6. [Content Brief]