Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy-Reference-Cited by-同舟云学术

Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy

Published:2021-12-28 Issue: Volume: Page:
ISSN:0305-1846
Container-title:Neuropathology and Applied Neurobiology
language:en
Short-container-title:Neuropathology Appl Neurobio

Author:

Ogasawara Masashi¹²,Eura Nobuyuki¹²³,Nagaoka Utako⁴,Sato Tatsuro⁵,Arahata Hajime⁶,Hayashi Tomohiro⁷,Okamoto Tomoko⁸,Takahashi Yuji⁸,Mori‐Yoshimura Madoka⁸,Oya Yasushi⁸,Nakamura Akinori⁹,Shimazaki Rui⁴,Sano Terunori¹⁰,Kumutpongpanich Theerawat¹,Minami Narihiro¹²,Hayashi Shinichiro¹²,Noguchi Satoru¹²,Iida Aritoshi²,Takao Masaki¹⁰,Nishino Ichizo¹²

Affiliation:

1. Department of Neuromuscular Research National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) Kodaira Japan

2. Medical Genome Center NCNP Kodaira Japan

3. Department of Neurology Nara Medical University Nara Japan

4. Department of Neurology Tokyo Metropolitan Neurological Hospital Tokyo Japan

5. Department of Neurology Hakodate Medical Association Hospital Hakodate Japan

6. Department of Neurology National Hospital Organization Omuta National Hospital Omuta Japan

7. Department of Neurology Toyama University Hospital Toyama Japan

8. Department of Neurology National Center Hospital, NCNP Tokyo Japan

9. Department of Clinical Research National Hospital Organization Matsumoto Medical Center Matsumoto Japan

10. Department of Laboratory Medicine NCNP Kodaira Japan

Funder

University of Tokushima

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Physiology (medical),Neurology (clinical),Neurology,Histology,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/nan.12787

Reference9 articles.

1. Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease

2. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

3. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

4. CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

5. Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

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1. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry;Nature Communications;2024-07-27

2. Clinical and pathological characteristics of OPDM4 patients in advanced disease;Muscle & Nerve;2024-07-23

3. Review of Phenotypic Heterogeneity of Neuronal Intranuclear Inclusion Disease and NOTCH2NLC -Related GGC Repeat Expansion Disorders;Neurology Genetics;2024-04

4. A CCG expansion inABCD3causes oculopharyngodistal myopathy in individuals of European ancestry;2023-10-10

5. Skin biopsy and neuronal intranuclear inclusion disease;The Journal of Dermatology;2023-09-18