A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion
JOURNAL OF NEUROLOGY (2014)
期刊
JOURNAL OF NEUROLOGY
卷 261, 期 1, 页码 242-244出版社
SPRINGER HEIDELBERG
关键词
作者
我是这篇论文的作者
推荐
SLC20A2-Associated Idiopathic basal ganglia calcification (Fahr disease): a case family report
Meiying Li, Qin Fu, Liangxu Xiang, Yingwei Zheng, Wenjing Ping, Yongjun Cao
BMC NEUROLOGY (2022)
Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype
Ahmet Cevdet Ceylan, Oya Kireker Koylu, Hamit Ozyurek, Eda Ozaydin, Mehmet Ilker Yon, Cigdem Seher Kasapkara
ACTA NEUROLOGICA BELGICA (2023)
Living with primary brain calcification with PDGFB variants: A qualitative study
Tomiko Takeuchi, Hisami Aoyagi, Yoshimi Kuwako, Isao Hozumi
PLOS ONE (2022)
Familial idiopathic basal ganglia calcification with a heterozygous missense variant (c.902C>T/p.P307L) in SLC20A2 showing widespread cerebrovascular lesions
Kenji Sakai, Chiho Ishida, Koji Hayashi, Naotaka Tsuji, Takayuki Kannon, Kazuyoshi Hosomichi, Nobuyuki Takei, Akiyoshi Kakita, Atsushi Tajima, Masahito Yamada
NEUROPATHOLOGY (2022)
Characterizing Cerebral Imaging and Electroclinical Features of Five Pseudohypoparathyroidism Cases Presenting with Epileptic Seizures
Zijuan Qi, Zhensheng Li, Quwen Gao, Li Dong, Jian Lin, Kairun Peng, Wei Xiang, Bingmei Deng
BEHAVIOURAL NEUROLOGY (2022)
Basal Ganglia Calcification Is Associated With Local and Systemic Metabolic Mechanisms in Adult Hypoparathyroidism
Guido Zavatta, Peter J. Tebben, Cynthia H. McCollough, Lifeng Yu, Thomas Vrieze, Bart L. Clarke
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2021)
The Genetics of Primary Familial Brain Calcification: A Literature Review
Shih-Ying Chen, Chen-Jui Ho, Yan-Ting Lu, Chih-Hsiang Lin, Min-Yu Lan, Meng-Han Tsai
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)
Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification
Sandrine Lenglez, Ariane Sablon, Gilles Fenelon, Anne Boland, Jean-Francois Deleuze, Claire Boutoleau-Bretonniere, Gael Nicolas, Jean-Baptiste Demoulin
HUMAN MOLECULAR GENETICS (2022)
Idiopathic basal ganglia calcification associated with new MYORG mutation site: A case report
Bei-Ni Fei, Hui-Zhen Su, Xiang-Ping Yao, Jing Ding, Xin Wang
WORLD JOURNAL OF CLINICAL CASES (2021)
Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression
Evan Zahniser, Thomas D. Bird, Dong-Hui Chen, Shu-Ching Hu, Wendy H. Raskind, Emily H. Trittschuh
ARCHIVES OF CLINICAL NEUROPSYCHOLOGY (2022)
Mineralizing Lenticulostriate Vasculopathy: An Emerging Risk Factor for Basal Ganglia Stroke After Minor Head Trauma in Young Children
Jatinder Singh Goraya
PEDIATRIC NEUROLOGY (2023)
Loss of function of CMPK2 causes mitochondria deficiency and brain calcification
Miao Zhao, Hui-Zhen Su, Yi-Heng Zeng, Yuan Sun, Xin-Xin Guo, Yun-Lu Li, Chong Wang, Zhi-Yuan Zhao, Xue-Jing Huang, Kai-Jun Lin, Zi-Ling Ye, Bi-Wei Lin, Shunyan Hong, Jitan Zheng, Yao-Bin Liu, Xiang-Ping Yao, Dehao Yang, Ying-Qian Lu, Hai-Zhu Chen, Erwei Zuo, Guang Yang, Hong-Tao Wang, Chen-Wei Huang, Xiao-Hong Lin, Zhidong Cen, Lu-Lu Lai, Yan-Ke Zhang, Xi Li, Tianmin Lai, Jingjing Lin, Dan-Dan Zuo, Min-Ting Lin, Chia-Wei Liou, Qing-Xia Kong, Chuan-Zhu Yan, Zhi-Qi Xiong, Ning Wang, Wei Luo, Cui-Ping Zhao, Xuewen Cheng, Wan-Jin Chen
CELL DISCOVERY (2022)
Histology and computed tomography of incidental calcifications in the human basal ganglia
Esther J. M. de Brouwer, Pim A. de Jong, Annemarieke De Jonghe, Marielle H. Emmelot-Vonk, Huiberdina L. Koek, Jan-Willem Dankbaar, Firdaus A. A. Mohamed Hoesein, Wim Van Hecke
NEURORADIOLOGY (2021)
Distinct effects of the basal ganglia and cerebellum on the thalamocortical pathway in idiopathic generalized epilepsy
Jinnan Gong, Sisi Jiang, Zhiliang Li, Haonan Pei, Qifu Li, Dezhong Yao, Cheng Luo
HUMAN BRAIN MAPPING (2021)
Fahr's disease presenting as Parkinson's disease along with dysphagia and dysarthria: A case report
Dilip Sapkota, Srijana Neupane, Prashant Pant, Oshan Shrestha, Pragyat Singh, Diwas Sapkota
CLINICAL CASE REPORTS (2023)
Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease
Natsumi Saito, Tomohiko Ishihara, Kensaku Kasuga, Mana Nishida, Takanobu Ishiguro, Hiroaki Nozaki, Takayoshi Shimohata, Osamu Onodera, Masatoyo Nishizawa
PRION (2018)
Preoperative Phosphorylated Tau Concentration in the Cerebrospinal Fluid Can Predict Cognitive Function Three Years after Shunt Surgery in Patients with Idiopathic Normal Pressure Hydrocephalus
Madoka Nakajima, Masakazu Miyajima, Ikuko Ogino, Chihiro Akiba, Kaito Kawamura, Chihiro Kamohara, Keiko Fusegi, Yoshinao Harada, Takeshi Hara, Hidenori Sugano, Yuichi Tange, Kostadin Karagiozov, Kensaku Kasuga, Takeshi Ikeuchi, Takahiko Tokuda, Hajime Arai
JOURNAL OF ALZHEIMERS DISEASE (2018)
Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Takeshi Miura, Naomi Mezaki, Takuya Konno, Akio Iwasaki, Naoyuki Hara, Masatomo Miura, Michitaka Funayama, Yuki Unai, Yuichi Tashiro, Kenji Okita, Takeshi Kihara, Nobuo Ito, Yoichi Kanatsuka, David T. Jones, Norikazu Hara, Takanobu Ishiguro, Takayoshi Tokutake, Kensaku Kasuga, Hiroaki Nozaki, Dennis W. Dickson, Osamu Onodera, Zbigniew K. Wszolek, Takeshi Ikeuchi
JOURNAL OF NEUROLOGY (2018)
Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer's disease
Oliver Preische, Stephanie A. Schultz, Anja Apel, Jens Kuhle, Stephan A. Kaeser, Christian Barro, Susanne Graeber, Elke Kuder-Buletta, Christian LaFougere, Christoph Laske, Jonathan Voeglein, Johannes Levin, Colin L. Masters, Ralph Martins, Peter R. Schofield, Martin N. Rossor, Neill R. Graff-Radford, Stephen Salloway, Bernardino Ghetti, John M. Ringman, James M. Noble, Jasmeer Chhatwal, Alison M. Goate, Tammie L. S. Benzinger, John C. Morris, Randall J. Bateman, Guoqiao Wang, Anne M. Fagan, Eric M. McDade, Brian A. Gordon, Mathias Jucker, Ricardo Allegri, Fatima Amtashar, Randall Bateman, Tammie Benzinger, Sarah Berman, Courtney Bodge, Susan Brandon, William Brooks, Jill Buck, Virginia Buckles, Sochenda Chea, Jasmeer Chhatwal, Patricio Chrem, Helena Chui, Jake Cinco, Jack Clifford, Carlos Cruchaga, Mirelle D'Mello, Tamara Donahue, Jane Douglas, Noelia Edigo, Nilufer Erekin-Taner, Anne Fagan, Marty Farlow, Angela Farrar, Howard Feldman, Gigi Flynn, Nick Fox, Erin Franklin, Hisako Fujii, Cortaiga Gant, Samantha Gardener, Bernardino Ghetti, Alison Goate, Jill Goldman, Brian Gordon, Neill Graff-Radford, Julia Gray, Jenny Gurney, Jason Hassenstab, Mie Hirohara, David Holtzman, Russ Hornbeck, Siri Houeland DiBari, Takeshi Ikeuchi, Snezana Ikonomovic, Gina Jerome, Mathias Jucker, Celeste Karch, Kensaku Kasuga, Takeshi Kawarabayashi, William Klunk, Robert Koeppe, Elke Kuder-Buletta, Christoph Laske, Jae-Hong Lee, Johannes Levin, Daniel Marcus, Ralph Martins, Neal Scott Mason, Colin Masters, Denise Maue-Dreyfus, Eric McDade, Lucy Montoya, Hiroshi Mori, John Morris, Akem Nagamatsu, Katie Neimeyer, James Noble, Joanne Norton, Richard Perrin, Marc Raichle, John Ringman, Jee Hoon Roh, Stephen Salloway, Peter Schofield, Hiroyuki Shimada, Tomoyo Shiroto, Mikio Shoji, Wendy Sigurdson, Hamid Sohrabi, Paige Sparks, Kazushi Suzuki, Laura Swisher, Kevin Taddei, Jen Wang, Peter Wang, Mike Weiner, Mary Wolfsberger, Chengjie Xiong, Xiong Xu
NATURE MEDICINE (2019)
An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations
Umber Dube, Jorge L. Del-Aguila, Zeran Li, John P. Budde, Shan Jiang, Simon Hsu, Laura Ibanez, Maria Victoria Fernandez, Fabiana Farias, Joanne Norton, Jen Gentsch, Fengxian Wang, Stephen Salloway, Colin L. Masters, Jae-Hong Lee, Neill R. Graff-Radford, Jasmeer P. Chhatwal, Randall J. Bateman, John C. Morris, Celeste M. Karch, Oscar Harari, Carlos Cruchaga, Ricardo Allegri, Fatima Amtashar, Tammie Benzinger, Sarah Berman, Courtney Bodge, Susan Brandon, William Brooks, Jill Buck, Virginia Buckles, Sochenda Chea, Patricio Chrem, Helena Chui, Jake Cinco, Jack Clifford, Mirelle D'Mello, Tamara Donahue, Jane Douglas, Noelia Edigo, Nilufer Erekin-Taner, Anne Fagan, Marty Farlow, Angela Farrar, Howard Feldman, Gigi Flynn, Nick Fox, Erin Franklie, Hisako Fujii, Cortaiga Gant, Samantha Gardener, Bernardino Ghetti, Alison Goate, Jill Goldman, Brian Gordon, Julia Gray, Jenny Gurney, Jason Hassenstab, Mie Hirohara, David Holtzman, Russ Hornbeck, Siri Houeland DiBari, Takeshi Ikeuchi, Snezana Ikonomovic, Gina Jerome, Mathias Jucker, Kensaku Kasuga, Takeshi Kawarabayashi, William Klunk, Robert Koeppe, Elke Kuder-Buletta, Christoph Laske, Johannes Levin, Daniel Marcus, Ralph Martins, Neal Scott Mason, Denise Maue-Dreyfus, Eric McDade, Lucy Montoya, Hiroshi Mori, Akem Nagamatsu, Katie Neimeyer, James Noble, Richard Perrin, Marc Raichle, John Ringman, Jee Hoon Roh, Peter Schofield, Hiroyuki Shimada, Tomoyo Shiroto, Mikio Shoji, Wendy Sigurdson, Hamid Sohrabi, Paige Sparks, Kazushi Suzuki, Laura Swisher, Kevin Taddei, Jen Wang, Peter Wang, Mike Weiner, Mary Wolfsberger, Chengjie Xiong, Xiong Xu
NATURE NEUROSCIENCE (2019)
A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer's disease
Nicolas R. Barthelemy, Yan Li, Nelly Joseph-Mathurin, Brian A. Gordon, Jason Hassenstab, Tammie. L. S. Benzinger, Virginia Buckles, Anne M. Fagan, Richard J. Perrin, Alison M. Goate, John C. Morris, Celeste M. Karch, Chengjie Xiong, Ricardo Allegri, Patricio Chrem Mendez, Sarah B. Berman, Takeshi Ikeuchi, Hiroshi Mori, Hiroyuki Shimada, Mikio Shoji, Kazushi Suzuki, James Noble, Martin Farlow, Jasmeer Chhatwal, Neill R. Graff-Radford, Stephen Salloway, Peter R. Schofield, Colin L. Masters, Ralph N. Martins, Antoinette O'Connor, Nick C. Fox, Johannes Levin, Mathias Jucker, Audrey Gabelle, Sylvain Lehmann, Chihiro Sato, Randall J. Bateman, Eric McDade, Ricardo Allegri, Ricardo Allegri, Randy Bateman, Jacob Bechara, Tammie Benzinger, Sarah Berman, Courtney Bodge, Susan Brandon, William (Bill) Brooks, Jill Buck, Virginia Buckles, Sochenda Chea, Jasmeer Chhatwal, Patricio Mendez, Helena Chui, Jake Cinco, Jack Clifford, Carlos Cruchaga, Tamara Donahue, Jane Douglas, Noelia Edigo, Nilufer Erekin-Taner, Anne Fagan, Martin Farlow, Colleen Fitzpatrick, Gigi Flynn, Nick Fox, Erin Franklin, Hisako Fujii, Cortaiga Gant, Samantha Gardener, Bernardino Ghetti, Alison Goate, Jill Goldman, Brian Gordon, Neill Graff-Radford, Julia Gray, Alexander Groves, Jason Hassenstab, Laura Hoechst-Swisher, David Holtzman, Russ Hornbeck, Siri Houeland DiBari, Takeshi Ikeuchi, Snezana Ikonomovic, Gina Jerome, Mathias Jucker, Celeste Karch, Kensaku Kasuga, Takeshi Kawarabayashi, William (Bill) Klunk, Robert Koeppe, Elke Kuder-Buletta, Christoph Laske, Jae-Hong Lee, Johannes Levin, Ralph Martins, Neal Scott Mason, Colin Masters, Denise Maue-Dreyfus, Eric McDade, Hiroshi Mori, John Morris, Akem Nagamatsu, Katie Neimeyer, James Noble, Joanne Norton, Richard Perrin, Marc Raichle, Alan Renton, John Ringman, Jee Hoon Roh, Stephen Salloway, Peter Schofield, Hiroyuki Shimada, Wendy Sigurdson, Hamid Sohrabi, Paige Sparks, Kazushi Suzuki, Kevin Taddei, Peter Wang, Chengjie Xiong, Xiong Xu
NATURE MEDICINE (2020)
Development of a Novel Nutrition-Related Multivariate Biomarker for Mild Cognitive Impairment Based on the Plasma Free Amino Acid Profile
Takeshi Ikeuchi, Yuki Yano, Wataru Sato, Fumiyoshi Morikawa, Shuta Toru, Chika Nishimura, Nobuhiko Miyazawa, Yasuko Kuroha, Ryoko Koike, Shin Tanaka, Kumiko Utsumi, Kensaku Kasuga, Takayoshi Tokutake, Kenjiro Ono, Satoshi Yano, Satoshi Naruse, Ryuji Yajima, Tadanori Hamano, Yuri Yokoyama, Akihiko Kitamura, Eiji Kaneko, Minoru Yamakado, Kenji Nagao
NUTRIENTS (2022)
Neuronal Intranuclear Inclusion Disease Presenting with Voice Tremor
Tomone Taneda, Masato Kanazawa, Yo Higuchi, Hironori Baba, Aiko Isami, Masahiro Uemura, Takuya Konno, Arata Horii, Takeshi Ikeuchi, Osamu Onodera
MOVEMENT DISORDERS CLINICAL PRACTICE (2022)
Possibility for Prevention of Type 2 Diabetes Mellitus and Dementia Using Three Kinds of Brown Rice Blends after High-Pressure Treatment
Sumiko Nakamura, Takeshi Ikeuchi, Aki Araki, Kensaku Kasuga, Kenichi Watanabe, Masao Hirayama, Mitsutoshi Ito, Ken'ichi Ohtsubo
FOODS (2022)
Clinical correlations of cerebrospinal fluid biomarkers including neuron-glia 2 and neurofilament light chain in patients with multiple system atrophy
Takayoshi Tokutake, Kensaku Kasuga, Tamao Tsukie, Takanobu Ishiguro, Takayoshi Shimohata, Osamu Onodera, Takeshi Ikeuchi
PARKINSONISM & RELATED DISORDERS (2022)
Different AT(N) profiles and clinical progression classified by two different N markers using total tau and neurofilament light chain in cerebrospinal fluid
Kensaku Kasuga, Masataka Kikuchi, Tamao Tsukie, Kazushi Suzuki, Ryoko Ihara, Atsushi Iwata, Norikazu Hara, Akinori Miyashita, Ryozo Kuwano, Takeshi Iwatsubo, Takeshi Ikeuchi
BMJ NEUROLOGY OPEN (2022)
Molecular Network Analysis of the Urinary Proteome of Alzheimer's Disease Patients
Yumi Watanabe, Yoshitoshi Hirao, Kensaku Kasuga, Takayoshi Tokutake, Yuka Semizu, Kaori Kitamura, Takeshi Ikeuchi, Kazutoshi Nakamura, Tadashi Yamamoto
DEMENTIA AND GERIATRIC COGNITIVE DISORDERS EXTRA (2019)
Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
Naomi Mezaki, Takeshi Miura, Kotaro Ogaki, Makoto Eriguchi, Yuri Mizuno, Kenichi Komatsu, Hiroki Yamazaki, Natsuki Suetsugi, Sumihiro Kawajiri, Ryo Yamasaki, Takanobu Ishiguro, Takuya Konno, Hiroaki Nozaki, Kensaku Kasuga, Yasuyuki Okuma, Jun-Ichi Kira, Hideo Hara, Osamu Onodera, Takeshi Ikeuchi
NEUROLOGY-GENETICS (2018)
Mutational Analysis of AARS2 in Japanese Patients with Adult-Onset Leukoencephalopathy Lacking CSF1R Mutation
Naomi Mezaki, Norikazu Hara, Tamao Tsukie, Toshiyasu Ogata, Toru Baba, Takeshi Miura, Takanobu Ishiguro, Hiroaki Nozaki, Kensaku Kasuga, Yoshio Tsuboi, Etsuro Mori, Osamu Onodera, Takeshi Ikeuchi
NEUROLOGY (2018)
Identification and Functional Assay of Novel CSF1R Mutations in Patients with Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
Takeshi Miura, Naomi Mezaki, Takanobu Ishiguro, Takayoshi Tokutake, Kensaku Kasuga, Takuya Konno, Hiroaki Nozaki, Osamu Onodera, Takeshi Ikeuchi
NEUROLOGY (2018)