Showing 1 - 20 results of 69 for search '"Orphanet Journal of Rare Diseases"', query time: 0.04s Refine Results
  1. 1
    Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study

    Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study by Zhi-Xian Ye, Xuan-Yu Chen, Meng-Cheng Li, Xin-Yuan Chen, Yu-Sen Qiu, Ru-Ying Yuan, Zhi-Li Chen, Min-Ting Lin, Jian-Ping Hu, Ying Fu, Wan-Jin Chen, Ning Wang, Shi-Rui Gan, on behalf of the OSCCAR Investigators

    Published 2025-01-01
    “…Orphanet Journal of Rare Diseases…”
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  2. 2
    Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model

    Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model by Shunan Wang, Ming Shen, Bo Pang, Bo Zhou, Yuan Yuan, Mei Lu, Xiangling Deng, Min Yang, Shufang Liu, Qiong Wang, Mei Xue, Qisheng Xia, Zhixin Zhang

    Published 2025-02-01
    “…Orphanet Journal of Rare Diseases…”
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  3. 3
    Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema

    Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema by Lingxi Jiang, Chao Dai, Suyang Duan, Tingting Wang, Chunbao Xie, Luhan Zhang, Zimeng Ye, Xiumei Ma, Yi Shi

    Published 2024-09-01
    “…Orphanet Journal of Rare Diseases…”
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  4. 4
    Efficacy of tranilast in preventing exacerbating cardiac function and death from heart failure in muscular dystrophy patients with advanced-stage heart failure: a single-arm, open-label, multicenter study

    Efficacy of tranilast in preventing exacerbating cardiac function and death from heart failure in muscular dystrophy patients with advanced-stage heart failure: a single-arm, open-... by Tsuyoshi Matsumura, Takayasu Fukudome, Yasufumi Motoyoshi, Akinori Nakamura, Satoshi Kuru, Kazuhiko Segawa, Ruriko Kitao, Chigusa Watanabe, Takuhisa Tamura, Toshiaki Takahashi, Hiroya Hashimoto, Masahiro Sekimizu, Akiko M. Saito, Masanori Asakura, Koichi Kimura, Yuko Iwata

    Published 2025-01-01
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  5. 5
    Epidemiology of transthyretin (ATTR) amyloidosis: a systematic literature review

    Epidemiology of transthyretin (ATTR) amyloidosis: a systematic literature review by Diego Delgado, Firas Dabbous, Nitin Shivappa, Faizan Mazhar, Eric Wittbrodt, Divya Shridharmurthy, Krister Järbrink

    Published 2025-01-01
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  6. 6
    Diagnosis and management of superficial arteriovenous malformations: French healthcare network’s recommendations

    Diagnosis and management of superficial arteriovenous malformations: French healthcare network’s recommendations by Olivia Boccara, Didier Salvan, Claude Laurian, Caroline Degrugillier-Chopinet, Nathalie Degardin, Jean-Guillaume Dillinger, Julie Malloizel-Delaunay, Stéphane Mouton, Stéphane Munck, Annabel Maruani, Annouk Bisdorff-Bresson

    Published 2025-01-01
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  7. 7
    Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study

    Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study by Lujie Zhang, Yongqiu Yu, Ting Liu, Chongyi Li, Liang Tan, Shuiqian Wen

    Published 2025-01-01
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  8. 8
    A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles

    A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles by Joost Groen, Bas M. de Haan, Ruben J. Overduin, Andrea B. Haijer-Schreuder, Terry GJ Derks, M. Rebecca Heiner-Fokkema

    Published 2025-01-01
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  9. 9
    A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment?

    A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment? by Isabelle Mohr, Patrick Lamade, Christophe Weber, Viola Leidner, Sebastian Köhrer, Alexander Olkus, Matthias Lang, Andrea Langel, Patrischia Dankert, Melanie Greibich, Silke Wolf, Holger Zimmer, Patrick Michl, Aurélia Poujois, Karl Heinz Weiss, Uta Merle

    Published 2025-01-01
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  10. 10
    Specific plasma metabolite profile in intestinal Behçet’s syndrome

    Specific plasma metabolite profile in intestinal Behçet’s syndrome by Cheng-cheng Hou, Hua-fang Bao, Chun-hui She, Hua-yu Chen, Guan-xing Pan, Hua-ning Chen, Hong-bing Rui

    Published 2025-01-01
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  11. 11
    Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey

    Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey by Ari Zimran, Shoshana Revel-Vilk, Tama Dinur, Majdolen Istaiti, Jaco Botha, Elena Lukina, Pilar Giraldo, Patrick Deegan, Stephan vom Dahl

    Published 2025-01-01
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  12. 12
    Patient and parent knowledge, understanding, and concerns after a new diagnosis of Ehlers Danlos syndrome

    Patient and parent knowledge, understanding, and concerns after a new diagnosis of Ehlers Danlos syndrome by Jordan T. Jones, Lora L. Black, William R. Black

    Published 2024-12-01
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  13. 13
    Preliminary study assessing the long-term surgical outcomes of TBX6-associated congenital scoliosis (TACS) patients using the propensity score matching method: exploring the clinical implications of genetic discoveries in congenital scoliosis

    Preliminary study assessing the long-term surgical outcomes of TBX6-associated congenital scoliosis (TACS) patients using the propensity score matching method: exploring the clinic... by Guanfeng Lin, Yang Yang, Zefu Chen, Sen Zhao, Yuchen Niu, You Du, Yiwei Zhao, Shengru Wang, Nan Wu, Jianguo Zhang

    Published 2025-01-01
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  14. 14
    PHARC syndrome: an overview

    PHARC syndrome: an overview by Lusine Harutyunyan, Patrick Callaerts, Sascha Vermeer

    Published 2024-11-01
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  15. 15
    The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update

    The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update by Lucas Bouys, Anna Vaczlavik, Isadora P. Cavalcante, Florian Violon, Anne Jouinot, Annabel Berthon, Patricia Vaduva, Stéphanie Espiard, Karine Perlemoine, Peter Kamenicky, Marie-Christine Vantyghem, Antoine Tabarin, Gérald Raverot, Cristina L. Ronchi, Ulrich Dischinger, Martin Reincke, Maria C. Fragoso, Constantine A. Stratakis, Albain Chansavang, Eric Pasmant, Bruno Ragazzon, Jérôme Bertherat, for the COMETE and ENSAT Networks

    Published 2025-02-01
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  16. 16
    Clinical severity grading of NF2-related schwannomatosis

    Clinical severity grading of NF2-related schwannomatosis by Anna C. Lawson McLean, Denise Löschner, Said Farschtschi, Nora F. Dengler, Steffen K. Rosahl

    Published 2025-01-01
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  17. 17
    Parental perception of treatment options for mucopolysaccharidosis: a survey to bridge the gap for personalized medicine

    Parental perception of treatment options for mucopolysaccharidosis: a survey to bridge the gap for personalized medicine by Anna-Maria Wiesinger, Florian B. Lagler

    Published 2025-01-01
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  18. 18
    VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review

    VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review by Jan Kafol, Barbara Gnidovec Strazisar, Ana Drole Torkar, Matjaz Homan, Sara Bertok, Matej Mlinaric, Jaka Sikonja, Jernej Kovač, Mirjana Perkovic Benedik, Tanja Kersnik Levart, Mojca Zerjav Tansek, Marina Praprotnik, Tadej Battelino, Maruša Debeljak, Urh Groselj

    Published 2024-12-01
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  19. 19
    Risdiplam utilization, adherence, and associated health care costs for patients with spinal muscular atrophy: a United States retrospective claims database analysis

    Risdiplam utilization, adherence, and associated health care costs for patients with spinal muscular atrophy: a United States retrospective claims database analysis by Anish Patel, Walter Toro, Min Yang, Wei Song, Raj Desai, Mingchen Ye, Nadia Tabatabaeepour, Omar Dabbous

    Published 2024-12-01
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  20. 20
    Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach

    Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach by Noushin Rostampour, Setila Dalili, Hossein Moravej, Zhila Afshar, Negar Yazdani, Seyedeh Tahereh Mousavi, Parastoo Rostami, Daniel Zamanfar, Maryam Yahay, Abdolhossein Nikravesh, Zahra Beyzaei, Mohamad Ahangar Davoodi, Atefeh Sedaghat, Tahora Hakemzadeh, Ali Talea

    Published 2025-01-01
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