Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation.

Autor: Hayashi H; Department of Pathology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-Ku, Niigata, 951-8585, Japan.; Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-Ku, Niigata, 951-8585, Japan., Saito R; Department of Pathology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-Ku, Niigata, 951-8585, Japan. riesaito@bri.niigata-u.ac.jp., Tanaka H; Department of Pathology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-Ku, Niigata, 951-8585, Japan., Hara N; Department of Molecular Genetics, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-Ku, Niigata, 951-8585, Japan., Koide S; Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-Ku, Niigata, 951-8585, Japan.; Departments of Neurology, National Hospital Organization Niigata National Hospital, 3-52 Akasakachou, Kashiwazaki, 945-8585, Japan., Yonemochi Y; Departments of Neurology, National Hospital Organization Niigata National Hospital, 3-52 Akasakachou, Kashiwazaki, 945-8585, Japan., Ozawa T; Department of Internal Medicine, National Hospital Organization Niigata National Hospital, 3-52 Akasakachou, Kashiwazaki, 945-8585, Japan., Hokari M; Department of Pathology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-Ku, Niigata, 951-8585, Japan.; Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-Ku, Niigata, 951-8585, Japan.; Department of Neurology, Niigata City General Hospital, 463-7 Shumoku, Chuo-Ku, Niigata, 950-1197, Japan., Toyoshima Y; Department of Pathology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-Ku, Niigata, 951-8585, Japan.; Department of Neurology, Brain Disease Center, Agano Hospital, 6317-15 Yasuda, Agano, Niigata, 959-2221, Japan., Miyashita A; Department of Molecular Genetics, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-Ku, Niigata, 951-8585, Japan., Onodera O; Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-Ku, Niigata, 951-8585, Japan., Okamoto K; Department of Translational Research, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-Ku, Niigata, 951-8585, Japan., Ikeuchi T; Department of Molecular Genetics, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-Ku, Niigata, 951-8585, Japan., Nakajima T; Departments of Neurology, National Hospital Organization Niigata National Hospital, 3-52 Akasakachou, Kashiwazaki, 945-8585, Japan., Kakita A; Department of Pathology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-Ku, Niigata, 951-8585, Japan.

Publikováno v: Acta neuropathologica communications [Acta Neuropathol Commun] 2023 Dec 20; Vol. 11 (1), pp. 207. Date of Electronic Publication: 2023 Dec 20.

Fibrodysplasia ossificans progressiva: Histopathological implications of aberrant bone morphogenic protein signalling for CNS dysgenesis.

Autor: Tanaka H; Department of Pathology, Brain Research Institute, Niigata University, Niigata, Niigata, Japan., Shimizu H; Department of Pathology, Brain Research Institute, Niigata University, Niigata, Niigata, Japan., Yonemochi Y; Department of Neurology, National Hospital Organization Niigata National Hospital, Kashiwazaki, Niigata, Japan., Ozawa T; Department of Internal Medicine, National Hospital Organization Niigata National Hospital, Kashiwazaki, Niigata, Japan., Toyoshima Y; Department of Pathology, Brain Research Institute, Niigata University, Niigata, Niigata, Japan., Nakajima T; Department of Neurology, National Hospital Organization Niigata National Hospital, Kashiwazaki, Niigata, Japan., Kakita A; Department of Pathology, Brain Research Institute, Niigata University, Niigata, Niigata, Japan.

Publikováno v: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2022 Jun; Vol. 48 (4), pp. e12805. Date of Electronic Publication: 2022 Mar 10.

Left Ventricular Non-Compaction: Evolving Concepts.

Autor: Pittorru, Raimondo¹ (AUTHOR) raimondo.pittorru@studenti.unipd.it, De Lazzari, Manuel¹ (AUTHOR), Migliore, Federico¹ (AUTHOR), Frasson, Enrica¹ (AUTHOR), Zorzi, Alessandro¹ (AUTHOR), Cipriani, Alberto¹ (AUTHOR), Brunetti, Giulia¹ (AUTHOR), De Conti, Giorgio² (AUTHOR), Motta, Raffaella¹ (AUTHOR), Perazzolo Marra, Martina¹ (AUTHOR), Corrado, Domenico¹ (AUTHOR) domenico.corrado@unipd.it

Publikováno v: Journal of Clinical Medicine. Oct2024, Vol. 13 Issue 19, p5674. 15p.

Clinico-pathological consolidation of fibro-dysplasia ossification progressiva

Autor: Yonemochi, Y., Tobinaga, M., Ikeda, T., Endo, H., Oota, K., Aida, I., Nakajima, T., Takahara, M., Ozawa, T., Tanaka, H., Toyoshima, Y., Takahashi, H., Kakita, A.

Publikováno v: In Journal of the Neurological Sciences 15 October 2017 381 Supplement:971-972

Involvement of TGF-β signaling-related proteins in the inclusions in adult-onset neuronal intranuclear inclusion disease

Autor: Sato, T., Tada, M., Takeuchi, R., Toyoshima, Y., Yoshida, M., Yonemochi, Y., Tomita, I., Mori, F., Wakabayashi, K., Yoshida, K., Ugawa, Y., Hashidate, H., Higuchi, Y., Onodera, O., Takahashi, H., Kakita, A.

Publikováno v: In Journal of the Neurological Sciences 15 October 2017 381 Supplement:776-777