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Neurogenetics

Section edited by Dai Zhang

This section focuses on the genetic aspects in neurology. Topics include, but are not limited to, inherited neuromuscular and neurodegenerative diseases, clinical genetics, molecular mechanisms, genetic testing of neurological disorders, mutation screenings, genetics of complex diseases and pharmacogenetics.

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  1. Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive disorder caused by defects in the ADP-Ribosylhydrolase Like 2 (ADPRHL2; OMIM: 618170) gene. ...

    Authors: Hajar Aryan, Ehsan Razmara, Dariush Farhud, Marjan Zarif-Yeganeh, Shaghayegh Zokaei, Seyed Abbas Hassani, Mahmoud Reza Ashrafi, Masoud Garshasbi and Ali Reza Tavasoli

    Citation: BMC Neurology 2020 20:291

    Content type: Case report

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  2. Spastic paraplegia type 30 (SPG30) caused by KIF1A mutations was first reported in 2011 and was initially considered a very rare autosomal recessive (AR) form. In the last years, thanks to the development of mass...

    Authors: G. E. Rudenskaya, V. A. Kadnikova, O. P. Ryzhkova, L. A. Bessonova, E. L. Dadali, D. S. Guseva, T. V. Markova, D. N. Khmelkova and A. V. Polyakov

    Citation: BMC Neurology 2020 20:290

    Content type: Research article

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  3. Leukodystrophies are familial heterogeneous disorders primarily affecting the white matter, which are defined as hypomyelinating or demyelinating based on disease severity as assessed at MRI. Recently, a group...

    Authors: Rosa Campopiano, Rosangela Ferese, Stefania Zampatti, Emiliano Giardina, Francesca Biagioni, Claudio Colonnese, Diego Centonze, Marianna Storto, Fabio Buttari, Edoardo Fraviga, Vania Broccoli, Mirco Fanelli, Francesco Fornai and Stefano Gambardella

    Citation: BMC Neurology 2020 20:258

    Content type: Case report

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  4. A unique patient with MELAS syndrome, who initially masqueraded as having acute encephalitis and was eventually diagnosed with MELAS syndrome harboring a mtDNA 14453G → A mutation, is described.

    Authors: Yuki Yokota, Makoto Hara, Takayoshi Akimoto, Tomotaka Mizoguchi, Yu-ichi Goto, Ichizo Nishino, Satoshi Kamei and Hideto Nakajima

    Citation: BMC Neurology 2020 20:247

    Content type: Case report

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  5. Spastic ataxia of Charlevoix-Saguenay is a neurodegenerative condition due to mutations in the SACS gene and without a cure. Attempts to treatments are scarce and limited to symptomatic drugs.

    Authors: Ivana Ricca, Alessandra Tessa, Rosanna Trovato, Giacomo Maria Bacci and Filippo Maria Santorelli

    Citation: BMC Neurology 2020 20:215

    Content type: Case report

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  6. Homozygous frameshift mutation in RUBCN (KIAA0226), known to result in endolysosomal machinery defects, has previously been reported in a single Saudi family with autosomal recessive spinocerebellar ataxia (Sa...

    Authors: Mohammed Z. Seidahmed, Muddathir H. Hamad, Albandary AlBakheet, Salah A. Elmalik, Abdulmajeed AlDrees, Jumanah Al-Sufayan, Ibrahim Alorainy, Ibrahim M. Ghozzi, Dilek Colak, Mustafa A. Salih and Namik Kaya

    Citation: BMC Neurology 2020 20:207

    Content type: Case report

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  7. Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative condition characterized by the loss of neurons and the presence of eosinophilic nuclear inclusions in the central and peripheral nervo...

    Authors: Mingming Li, Kai Li, Xin Li, Yun Tian, Lu Shen, Guode Wu, Zaiqiang Zhang and Weian Chen

    Citation: BMC Neurology 2020 20:125

    Content type: Case report

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  8. Spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord is better known as herniated spinal cord. There are many arguments in favour of considering it a developmental defect. From this poin...

    Authors: Ronald H. M. A. Bartels, J. Andre Grotenhuis, Alexander P. A. Stegmann and Han Brunner

    Citation: BMC Neurology 2020 20:121

    Content type: Case report

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  9. Detection of brain-MRI T2/T2* gradient echo images (T2*GRE)-hypointensity can be compatible with iron accumulation and leads to a differential diagnosis work-up including neurodegeneration with brain iron accu...

    Authors: Stefania Scarlini, Francesco Cavallieri, Massimo Fiorini, Elisa Menozzi, Francesca Ferrara, Francesca Cavalleri, Chiara Reale, Barbara Garavaglia, Antonello Pietrangelo, Franco Valzania and Elena Corradini

    Citation: BMC Neurology 2020 20:113

    Content type: Case report

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  10. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused by mutations in NOTCH3 gene with remarkable phenotypic heterogeneit...

    Authors: Ruojie He, Huan Li, Yiming Sun, Menglong Chen, Liang Wang, Yuling Zhu and Cheng Zhang

    Citation: BMC Neurology 2020 20:72

    Content type: Case report

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  11. Spastic paraplegia type 11 (SPG11) mutations are the most frequent cause of autosomal recessive hereditary spastic paraplegia (ARHSP). We are aiming to identify the causative mutations in SPG11 among families ref...

    Authors: Xueping Chen, Jiao Liu, Qian-Qian Wei, Ru Wei Ou, Bei Cao, Xiaoqin Yuan, Yanbing Hou, Lingyu Zhang and Huifang Shang

    Citation: BMC Neurology 2020 20:2

    Content type: Research article

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  12. Charles Bonnet syndrome is characterized by simple or complex visual hallucinations (VH) due to damage along the visual pathways. We report a functional MRI study of brain correlates of VH in the context of a ...

    Authors: V. Vacchiano, C. Tonon, M. Mitolo, S. Evangelisti, M. Carbonelli, R. Liguori, R. Lodi, V. Carelli and C. La Morgia

    Citation: BMC Neurology 2019 19:350

    Content type: Case report

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  13. Hyperprolinemia type 2 (HPII) is a rare autosomal recessive disorder of the proline metabolism, that affects the ALDH4A1 gene. So far only four different pathogenic mutations are known. The manifestation is mostl...

    Authors: Jeremias Motte, Anna Lena Fisse, Thomas Grüter, Ruth Schneider, Thomas Breuer, Thomas Lücke, Stefan Krueger, Huu Phuc Nguyen, Ralf Gold, Ilya Ayzenberg and Gisa Ellrichmann

    Citation: BMC Neurology 2019 19:345

    Content type: Case report

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  14. Meningeal carcinomatosis (MC) is the most severe form of brain metastasis and causes significant morbidity and mortality. Currently, the diagnosis of MC is routinely confirmed on the basis of clinical manifest...

    Authors: Yue Zhao, Jun-Ying He, Yue-Li Zou, Xiao-Su Guo, Jun-Zhao Cui, Li Guo and Hui Bu

    Citation: BMC Neurology 2019 19:331

    Content type: Research article

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  15. Hereditary spastic paraplegia is a large group of degenerative, neurological disorders characterized by progressive lower limb spasticity and weakness. The disease was investigated precisely but still clinicia...

    Authors: Aleksandra Klimkowicz-Mrowiec, Anna Dziubek, Malgorzata Sado, Marek Karpiński and Agnieszka Gorzkowska

    Citation: BMC Neurology 2019 19:322

    Content type: Case report

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  16. Parkinsonism is a complex multifactorial neurodegenerative disorder, in which genetic and environmental risk factors may both play a role. Among environmental risk factors cocaine was earlier ambiguously linke...

    Authors: Anett Illés, Péter Balicza, Viktor Molnár, Renáta Bencsik, István Szilvási and Maria Judit Molnar

    Citation: BMC Neurology 2019 19:260

    Content type: Case report

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  17. To describe a patient with sleep alleviated episodic ataxia type 2 with a novel CACNA1A pathogenic variant and provide a possible link to sleep responsive migraine.

    Authors: Abhimanyu S. Ahuja, Todd D. Rozen and Paldeep S. Atwal

    Citation: BMC Neurology 2019 19:246

    Content type: Case report

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  18. Adrenoleukodystrophy is a rare neurogenetic disease, AMN is the most common adult phenotype, such patients in China have not gotten enough attention. This article aims to study the features of AMN in Chinese p...

    Authors: Jie Li, Hongfen Wang, Zizi He, Xiangqing Wang, Jing Tang and Dehui Huang

    Citation: BMC Neurology 2019 19:227

    Content type: Research article

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  19. Vanishing white matter disease (VWMD) is one of the most prevalent inherited leukoencephalopathies, which generally presents in childhood as a progressive disorder while less beginning in adulthood. The presen...

    Authors: Cuibai Wei, Qi Qin, Fei Chen, Aihong Zhou, Fen Wang, Xiumei Zuo, Rong Chen, Jihui Lyu and Jianping Jia

    Citation: BMC Neurology 2019 19:203

    Content type: Case report

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  20. Presenilin-1 (PSEN1) is one of the causative genes for early onset Alzheimer’s disease (EOAD). Recently, emerging studies reported several novel PSEN1 mutations among Asian. We describe a male with EOAD had a ...

    Authors: Vo Van Giau, Jung-Min Pyun, Jeewon Suh, Eva Bagyinszky, Seong Soo A. An and Sang Yun Kim

    Citation: BMC Neurology 2019 19:188

    Content type: Case report

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  21. Hereditary ataxia is a group of neurodegenerative diseases with progressive cerebellar ataxia of the gait and limbs as the main symptoms. The genetic patterns of the disease are diverse but it is mainly divide...

    Authors: Jiajun Chen, Yajuan Sun, Xiaoyang Liu and Jia Li

    Citation: BMC Neurology 2019 19:157

    Content type: Research article

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  22. Loss-of-function mutations in the CLCN2 gene were recently discovered to be a cause of a type of leukodystrophy named CLCN2-related leukoencephalopathy (CC2L), which is characterized by intramyelinic edema. Herei...

    Authors: Zhuoxin Guo, Tingting Lu, Lisheng Peng, Huanhuan Cheng, Fuhua Peng, Jin Li, Zhengqi Lu, Shaoqiong Chen and Wei Qiu

    Citation: BMC Neurology 2019 19:156

    Content type: Case report

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  23. Multiple Mitochondrial Dysfunctions Syndrome 4 (MMDS4) is manifested as a result of ISCA2 mutations. ISCA2 is a vital component of 4Fe-4S clusters assembly machine. Therefore, in MMDS4 patients, deficient mitocho...

    Authors: Milad Eidi and Masoud Garshasbi

    Citation: BMC Neurology 2019 19:153

    Content type: Case report

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  24. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy associated with the NOTCH3 gene. Clinical manifestations include strokes, transien...

    Authors: Chumpol Anamnart, Dittapong Songsaeng and Sirisak Chanprasert

    Citation: BMC Neurology 2019 19:106

    Content type: Case report

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  25. Primary periodic paralysis is characterized by recurrent quadriplegia typically associated with abnormal serum potassium levels. The molecular diagnosis of primary PP previously based on Sanger sequencing of h...

    Authors: Sushan Luo, Minjie Xu, Jian Sun, Kai Qiao, Jie Song, Shuang Cai, Wenhua Zhu, Lei Zhou, Jianying Xi, Jiahong Lu, Xiaohua Ni, Tonghai Dou and Chongbo Zhao

    Citation: BMC Neurology 2019 19:92

    Content type: Research article

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  26. Missense mutations in SAMD9L gene is associated with ataxia-pancytopenia syndrome (ATXPC), OMIM#159550. Common clinical features in these patients include neurological and hematological symptoms. The phenotype an...

    Authors: Sofia Thunström and Markus Axelsson

    Citation: BMC Neurology 2019 19:89

    Content type: Case report

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  27. Wilson’s disease (WD) is an autosomal recessive disease of impaired copper metabolism. Previous study demonstrated that WD with corpus callosum abnormalities (WD-CCA) was limited to the posterior part (spleniu...

    Authors: Zhi-Hua Zhou, Yun-Fan Wu, Jin Cao, Ji-Yuan Hu, Yong-Zhu Han, Ming-Fan Hong, Gong-Qiang Wang, Shu-Hu Liu and Xue-Min Wang

    Citation: BMC Neurology 2019 19:85

    Content type: Research article

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  28. Primary familial brain calcification is a rare autosomal dominant or recessive neurodegenerative disease, characterized by bilateral brain calcifications in different areas of the brain. It is a clinically het...

    Authors: Stine Westergaard Mathorne, Kristina Sørensen, Christina Fagerberg, Matthias Bode and Jens Michael Hertz

    Citation: BMC Neurology 2019 19:60

    Content type: Research article

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  29. Spinocerebellar ataxia type 31 (SCA 31) is a slowly progressive neurodegenerative disorder characterized by pure cerebellar ataxia. Unlike other CAG repeat diseases, sleep-related problems have not been report...

    Authors: Kazumasa Shindo, Tohko Sato, Hiroaki Murata, Yuta Ichinose, Takanori Hata and Yoshihisa Takiyama

    Citation: BMC Neurology 2019 19:9

    Content type: Case report

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  30. Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes...

    Authors: Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Dhairya Pancholi, Mahesh Kamate, Neerja Gupta, Madhulika Kabra, Sanjiv Mehta, Sheela Nampoothiri, Arpita Thakker, Vivek Jain, Raju Shah and Frenny Sheth

    Citation: BMC Neurology 2018 18:203

    Content type: Research article

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  31. Autosomal recessive hereditary spastic paraplegias (ARHSPs) are a group of clinically and genetically heterogeneous neurodegenerative diseases with progressive spasticity and weakness in the lower limbs. Mutat...

    Authors: Xiaoqian Zhang, Lei Zhang, Yanqing Wu, Gang Li, Shengcai Chen, Yuanpeng Xia and Hongge Li

    Citation: BMC Neurology 2018 18:196

    Content type: Case report

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  32. Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is an autosomal recessive disorder with predominant sensory dysfunction and severe complications such as limb destruction. There are different subtype...

    Authors: Behrouz Rahmani, Fatemeh Fekrmandi, Keivan Ahadi, Tannaz Ahadi, Afagh Alavi, Abolhassan Ahmadiani and Sareh Asadi

    Citation: BMC Neurology 2018 18:195

    Content type: Research article

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  33. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar a...

    Authors: Ashraf Yahia, Liena Elsayed, Arwa Babai, Mustafa A. Salih, Sarah Misbah El-Sadig, Mutaz Amin, Mahmoud Koko, Rayan Abubakr, Razaz Idris, Shaimaa Omer M.A. Taha, Salah A. Elmalik, Alexis Brice, Ammar Eltahir Ahmed and Giovanni Stevanin

    Citation: BMC Neurology 2018 18:175

    Content type: Case report

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  34. DNA methyltransferase 1 (EC 2.1.1.37), encoded by DNMT1 gene, is one of key enzymes in maintaining DNA methylation patterns of the human genome. It plays a crucial role in embryonic development, imprinting and...

    Authors: Wenxia Zheng, Zhenxing Yan, Rongni He, Yaowei Huang, Aiqun Lin, Wei Huang, Yuying Su, Shaoyuan Li, Victor Wei Zhang and Huifang Xie

    Citation: BMC Neurology 2018 18:174

    Content type: Case report

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  35. Niemann-Pick disease type C (NPC) is a lysosomal storage disorder with severe prognosis. Disease-specific therapy is crucial to prevent disease progression; however, diagnosing NPC is quite difficult because o...

    Authors: Tomoya Kawazoe, Toshiyuki Yamamoto, Aya Narita, Kousaku Ohno, Kaori Adachi, Eiji Nanba, Atsuko Noguchi, Tsutomu Takahashi, Masamitsu Maekawa, Yoshikatsu Eto, Masafumi Ogawa, Miho Murata and Yuji Takahashi

    Citation: BMC Neurology 2018 18:117

    Content type: Case report

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  36. Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease characterized by substantial clinical and genetic heterogeneity. Thus far, only a few TARDBP-ALS families have been reported in China, and...

    Authors: Guo-rong Xu, Wei Hu, Ling-Ling Zhan, Chong Wang, Liu-Qing Xu, Min-Ting Lin, Wan-Jin Chen, Ning Wang and Qi-Jie Zhang

    Citation: BMC Neurology 2018 18:35

    Content type: Research article

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  37. CDKN2BAS gene polymorphisms has been shown to correlation with intracranial aneurysm(IA) in the study of foreign people. The study, the author selected the Chinese people as the research object to explore whet...

    Authors: Yunchang Chen, Gancheng Li, Haiyan Fan, Shenquan Guo, Ran Li, Jian Yin, Xin Zhang, Xifeng Li, Xuying He and Chuanzhi Duan

    Citation: BMC Neurology 2017 17:214

    Content type: Research article

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  38. The genetic architecture of Parkinson’s Disease (PD) is complex and not completely understood. Multiple genetic studies to date have identified multiple causal genes and risk loci. Nevertheless, most of the ex...

    Authors: Laura Ibanez, Umber Dube, Benjamin Saef, John Budde, Kathleen Black, Alexandra Medvedeva, Jorge L. Del-Aguila, Albert A. Davis, Joel S. Perlmutter, Oscar Harari, Bruno A. Benitez and Carlos Cruchaga

    Citation: BMC Neurology 2017 17:198

    Content type: Research article

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  39. Alexander disease (AxD) is an astrogliopathy that predominantly affects the white matter of the central nervous system (CNS), and is caused by a mutation in the gene encoding the glial fibrillary acidic protei...

    Authors: So-Hyun Lee, Tai-Seung Nam, Kun-Hee Kim, Jin Hee Kim, Woong Yoon, Suk-Hee Heo, Min Jung Kim, Boo Ahn Shin, Ming-Der Perng, Hyon E. Choy, Jihoon Jo, Myeong-Kyu Kim and Seok-Yong Choi

    Citation: BMC Neurology 2017 17:175

    Content type: Research article

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  40. Bi-allelic mutations in the genes Parkin (PARK2), PINK1 (PARK6) and DJ-1 (PARK7) are established causes of autosomal recessive early-onset Parkinson’s Disease (EOPD). PINK1 mutations are the second commonest caus...

    Authors: Brendan P. Norman, Steven J. Lubbe, Manuela Tan, Naomi Warren and Huw R. Morris

    Citation: BMC Neurology 2017 17:153

    Content type: Case report

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  41. Fatal familial insomnia (FFI) is a rare autosomal dominant disease caused by the PRNP D178N/129 M mutation. Routine brain CT and MRI usually reveal non-specific features. We report a patient with FFI presentin...

    Authors: Tingting Lu, Yuhang Pan, Lisheng Peng, Feng Qin, Xiaobo Sun, Zhengqi Lu and Wei Qiu

    Citation: BMC Neurology 2017 17:104

    Content type: Case report

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  42. As the popularity of transcriptomic analysis has grown, the reported lack of concordance between different studies of the same condition has become a growing concern, raising questions as to the representative...

    Authors: Erin Oerton and Andreas Bender

    Citation: BMC Neurology 2017 17:58

    Content type: Research article

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    The Correction to this article has been published in BMC Neurology 2019 19:16

  43. Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of metabolism inherited in autosomal recessive pattern and is associated with a wide spectrum of neurological abnormalities.

    Authors: Shin Iida, Masataka Nakamura, Shinya Asayama, Takenobu Kunieda, Satoshi Kaneko, Hitoshi Osaka and Hirofumi Kusaka

    Citation: BMC Neurology 2017 17:47

    Content type: Case report

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  44. Patients with the later-onset IVS4+919G>A (IVS4) Fabry mutation are known to have positive central nervous system involvement compared with age- and sex-matched controls. This study compares central nervous sy...

    Authors: Han-Jui Lee, Ting-Rong Hsu, Sheng-Che Hung, Wen-Chung Yu, Tzu-Hung Chu, Chia-Feng Yang, Svetlana Bizjajeva, Chui-Mei Tiu and Dau-Ming Niu

    Citation: BMC Neurology 2017 17:25

    Content type: Research article

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  45. The effect of genetic variants on aspirin resistance (AR) remains controversial. We sought to assess the association of genetic variants with AR and early clinical outcomes in patients with acute ischemic stro...

    Authors: Xingyang Yi, Chun Wang, Qiang Zhou and Jing Lin

    Citation: BMC Neurology 2017 17:4

    Content type: Research article

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  46. Cleidocranial dysplasia (CCD) is a rare hereditary disorder that arises from heterozygous loss of function mutations in the runt-related transcription factor 2 (RUNX2) gene. As RUNX2 is mainly expressed in osteob...

    Authors: Sung-Ju Hsueh, Ni-Chung Lee, Shu-Hua Yang, Han-I Lin and Chin-Hsien Lin

    Citation: BMC Neurology 2017 17:2

    Content type: Case report

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