Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant? Jakub Sikora , Ivana Jedlickova, Anna Pristoupilova, Viktor Stranecky & Tomas Honzik Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic

[1]  S. Kmoch,et al.  NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease. , 2020, Journal of neuropathology and experimental neurology.

[2]  Nick C Fox,et al.  Neuronal intranuclear inclusion disease is genetically heterogeneous , 2020, Annals of clinical and translational neurology.

[3]  Zhaoxia Wang,et al.  Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease , 2019, Journal of Medical Genetics.

[4]  Fumiaki Tanaka,et al.  Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease , 2019, Nature Genetics.

[5]  Shinichi Morishita,et al.  Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease , 2019, Nature Genetics.

[6]  P. Jin,et al.  Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders , 2019, American journal of human genetics.

[7]  M. Farrell,et al.  A Case of Juvenile Onset Neuronal Intranuclear Inclusion Disease With a Negative Antemortem Skin Biopsy , 2018, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[8]  G. Sobue,et al.  Clinicopathological features of adult-onset neuronal intranuclear inclusion disease , 2016, Brain : a journal of neurology.

[9]  I. Mohri,et al.  Neuronal Intranuclear Hyaline Inclusion Disease With Rapidly Progressive Neurological Symptoms , 2007, Journal of child neurology.

[10]  C. Wiley,et al.  Neuronal Intranuclear Inclusion Disease Without Polyglutamine Inclusions in a Child , 2005, Journal of neuropathology and experimental neurology.

[11]  J. Gilbert,et al.  Multiple system atrophy with neuronal intranuclear hyaline inclusions , 1981, Acta Neuropathologica.

[12]  J. Powers,et al.  Neuronal intranuclear hyaline inclusion disease in a nine year old , 2004, Acta Neuropathologica.

[13]  Junko Takahashi-Fujigasaki,et al.  Neuronal intranuclear hyaline inclusion disease , 2003, Neuropathology : official journal of the Japanese Society of Neuropathology.

[14]  R. Haslam,et al.  Neuronal intranuclear hyaline inclusion disease with progressive cerebellar ataxia. , 1994, Pediatric neurology.

[15]  M. Popović,et al.  Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. , 1991, Human pathology.

[16]  M. Norman,et al.  Multiple system atrophy with neuronal intranuclear hyaline inclusions Report of a case and review of the literature , 1985, Journal of the Neurological Sciences.