Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease – Case series and review

[1]  P. Moretti,et al.  Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene , 2021, Neurology: Genetics.

[2]  V. Kimonis,et al.  Multisystem proteinopathy: Where myopathy and motor neuron disease converge , 2020, Muscle & nerve.

[3]  M. de Carvalho,et al.  VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease , 2020, Amyotrophic lateral sclerosis & frontotemporal degeneration.

[4]  O. Barel,et al.  Identification of a homozygous VRK1 mutation in two patients with adult‐onset distal hereditary motor neuropathy , 2019, Muscle & nerve.

[5]  N. Laing,et al.  Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study , 2019, Annals of Clinical and Translational Neurology.

[6]  N. Matsumoto,et al.  Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease , 2019, Internal medicine.

[7]  A. Mégarbané,et al.  Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1. , 2019, Human molecular genetics.

[8]  Xueling Suo,et al.  A novel mutation in VRK1 associated with distal spinal muscular atrophy , 2019, Journal of Human Genetics.

[9]  Shu-man Feng,et al.  A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy , 2018, Annals of clinical and translational neurology.

[10]  M. Milone,et al.  The unfolding spectrum of inherited distal myopathies , 2018, Muscle & nerve.

[11]  G. Malinger,et al.  Whole-exome sequencing in fetuses with central nervous system abnormalities , 2018, Journal of Perinatology.

[12]  T. Yousry,et al.  The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies , 2018, Front. Neurol..

[13]  D. Birchall,et al.  Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy , 2016, Neurology: Genetics.

[14]  A. Quattrone,et al.  6th International Charcot‐Marie‐Tooth and Related Neuropathy Consortium (CMTR) Meeting , 2016 .

[15]  T. Roscioli,et al.  Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia , 2016, Neurology.

[16]  W. Wiszniewski,et al.  Expanding Phenotype of VRK1 Mutations in Motor Neuron Disease , 2015, Journal of clinical neuromuscular disease.

[17]  W. Linssen,et al.  Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies , 2014, Neuromuscular Disorders.

[18]  I. Nishino,et al.  GNE myopathy: current update and future therapy , 2014, Journal of Neurology, Neurosurgery & Psychiatry.

[19]  J. Lupski,et al.  Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. , 2013, JAMA neurology.

[20]  Wei Chen,et al.  Deep sequencing reveals 50 novel genes for recessive cognitive disorders , 2011, Nature.

[21]  M. King,et al.  Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. , 2009, American journal of human genetics.

[22]  Xueling Suo,et al.  A novel mutation in VRK 1 associated with distal spinal muscular atrophy , 2019 .

[23]  N. Matsumoto,et al.  Novel VRK 1 Mutations in a Patient with Childhood-onset Motor Neuron Disease , 2019 .