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Select item 76539841.

EAES Recommendations for Recovery Plan in Minimally Invasive Surgery Amid COVID-19 Pandemic

Alberto Arezzo, Nader Francis, Yoav Mintz, Michel Adamina, Stavros A. Antoniou, Nicole Bouvy, Catalin Copaescu, Nicolò de Manzini, Nicola Di Lorenzo, Salvador Morales-Conde, Beat P. Müller-Stich, Felix Nickel, Dorin Popa, Diana Tait, Cenydd Thomas, Susan Nimmo, Dimitrios Paraskevis, Andrea Pietrabissa, The EAES Group of Experts for Recovery Amid COVID-19 Pandemic

Surg Endosc. 2021; 35(1): 1–17. Published online 2020 Nov 10. doi: 10.1007/s00464-020-08131-0

PMCID:: PMC7653984

Abstract Article PDF–811K

Select item 38163332.

Details of a prospective protocol for a collaborative meta-analysis of individual participant data from all randomized trials of intravenous rt-PA vs. control: statistical analysis plan for the Stroke Thrombolysis Trialists' Collaborative meta-analysis

The Stroke Thrombolysis Trialists' Collaborative Group

Int J Stroke. 2013 Jun; 8(4): 278–283. Published online 2013 May 3. doi: 10.1111/ijs.12040

PMCID:: PMC3816333

Abstract Article PDF–300K

Select item 71800143.

Plan de contingencia para los servicios de medicina intensiva frente a la pandemia COVID-19

P. Rascado Sedes, M.A. Ballesteros Sanz, M.A. Bodí Saera, L.F. Carrasco Rodríguez-Rey, A. Castellanos Ortega, M. Catalán González, C. de Haro López, E. Díaz Santos, A. Escriba Barcena, M.J. Frade Mera, J.C. Igeño Cano, M.C. Martín Delgado, G. Martínez Estalella, N. Raimondi, O. Roca i Gas, A. Rodríguez Oviedo, E. Romero San Pío, J. Trenado Álvarez, Junta directiva de la SEMICYUC, Junta directiva de la SEEIUC

Med Intensiva. 2020 August-September; 44(6): 363–370. Spanish. Published online 2020 Apr 23. doi: 10.1016/j.medin.2020.03.006

PMCID:: PMC7180014

Abstract Article PDF–610K

Select item 71296384.

Plan de contingencia para los servicios de medicina intensiva frente a la pandemia COVID-19

P. Rascado Sedes, M.Á. Ballesteros Sanz, M.A. Bodí Saera, L.F. Carrasco RodríguezRey, Á. Castellanos Ortega, M. Catalán González, C. de Haro López, E. Díaz Santos, A. Escriba Barcena, M.J. Frade Mera, J.C. Igeño Cano, M.C. Martín Delgado, G. Martínez Estalella, N. Raimondi, O. Roca i Gas, A. Rodríguez Oviedo, E. Romero San Pío, J. Trenado Álvarez, M. Raurell, Junta directiva de la SEMICYUC, Junta directiva de la SEEIUC, Junta directiva de la SEMICYUC, Junta directiva de la SEEIUC

Enferm Intensiva. 2020 April-June; 31(2): 82–89. Spanish. Published online 2020 Apr 3. doi: 10.1016/j.enfi.2020.03.001

PMCID:: PMC7129638

Abstract Article PDF–568K

Select item 2969295.

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.

A M Wang, D Schindler, R Desnick

J Clin Invest. 1990 Nov; 86(5): 1752–1756. doi: 10.1172/JCI114901

PMCID:: PMC296929

Summary Page Browse PDF–1.1M

Select item 109989926.

A rare inherited homozygous missense variant in PLA2G6 influences susceptibility to infantile neuroaxonal dystrophy: a case report

Yongxue Lyu, Tao Wang, Meifang Lin, Fengfeng Qi

Transl Pediatr. 2024 Mar 27; 13(3): 484–491. Published online 2024 Mar 20. doi: 10.21037/tp-23-568

PMCID:: PMC10998992

Abstract Article PDF–668K

Select item 95311997.

Infantile Neuroaxonal Dystrophy in Two Cases: Siblings with Different Presentations

Behnaz ANSARI, Jafar NASIRI, Hamide NAMAZI, Maryam SEDGHI, Mahdieh AFZALI

Iran J Child Neurol. 2022 Summer; 16(3): 193–198. Published online 2022 Jul 16. doi: 10.22037/ijcn.v16i2.30864

PMCID:: PMC9531199

Abstract Article PDF–230K

Select item 92982768.

Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy

Yongyi Zou, Haiyan Luo, Huizhen Yuan, Kang Xie, Yan Yang, Shuhui Huang, Bicheng Yang, Yanqiu Liu

Front Neurol. 2022; 13: 904027. Published online 2022 Jul 6. doi: 10.3389/fneur.2022.904027

PMCID:: PMC9298276

Abstract Article PDF–1.0M

Select item 89060519.

Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy

Dorsa Rostampour, Mohammad Reza Zolfaghari, Milad Gholami

J Clin Lab Anal. 2022 Mar; 36(3): e24253. Published online 2022 Jan 29. doi: 10.1002/jcla.24253

PMCID:: PMC8906051

Abstract Article PDF–406K

Select item 739269410.

The infantile neuroaxonal dystrophy rating scale (INAD-RS)

Paldeep S. Atwal, Mark Midei, Darius Adams, Alexander Fay, Frederic Heerinckx, Peter Milner

Orphanet J Rare Dis. 2020; 15: 195. Published online 2020 Jul 29. doi: 10.1186/s13023-020-01479-5

PMCID:: PMC7392694

Abstract Article PDF–411K

Select item 739025311.

婴儿神经轴索营养不良的临床特点及PLA2G6基因分析

陆瑶, 刘春花, 王杨

Zhongguo Dang Dai Er Ke Za Zhi. 2019 Sep 25; 21(9): 851–855. Chinese. doi: 10.7499/j.issn.1008-8830.2019.09.002

PMCID:: PMC7390253

Abstract Article PDF–1.7M

Select item 735866412.

Treatment of infantile neuroaxonal dystrophy with RT001: A di‐deuterated ethyl ester of linoleic acid: Report of two cases

Darius Adams, Mark Midei, Jahannaz Dastgir, Christina Flora, Robert J Molinari, Frederic Heerinckx, Sarah Endemann, Paldeep Atwal, Peter Milner, Mikhail S. Shchepinov

JIMD Rep. 2020 Jul; 54(1): 54–60. Published online 2020 Mar 27. doi: 10.1002/jmd2.12116

PMCID:: PMC7358664

Abstract Article PDF–1.6M

Select item 719340613.

The natural history of infantile neuroaxonal dystrophy

Fadie D. Altuame, Gretchen Foskett, Paldeep S. Atwal, Sarah Endemann, Mark Midei, Peter Milner, Mustafa A. Salih, Muddathir Hamad, Mohammad Al-Muhaizea, Mais Hashem, Fowzan S. Alkuraya

Orphanet J Rare Dis. 2020; 15: 109. Published online 2020 May 1. doi: 10.1186/s13023-020-01355-2

PMCID:: PMC7193406

Abstract Article PDF–993K

Select item 696617714.

Successful clinical application of pre-implantation genetic diagnosis for infantile neuroaxonal dystrophy

Yan Hao, Dawei Chen, Guirong Zhang, Zhiguo Zhang, Xiaojun Liu, Ping Zhou, Zhaolian Wei, Xiaofeng Xu, Xiaojin He, Lixian Xing, Mingrong Lv, Dongmei Ji, Beili Chen, Weiwei Zou, Huan Wu, Yajing Liu, Yunxia Cao

Exp Ther Med. 2020 Feb; 19(2): 956–964. Published online 2019 Dec 9. doi: 10.3892/etm.2019.8302

PMCID:: PMC6966177

Abstract Article PDF–877K

Select item 629545715.

Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments

Patricia L. Babin, Sudheendra N. R. Rao, Anita Chacko, Fidelia B. Alvina, Anil Panwala, Leena Panwala, Danielle C. Fumagalli

Front Genet. 2018; 9: 597. Published online 2018 Dec 10. doi: 10.3389/fgene.2018.00597

PMCID:: PMC6295457

Abstract Article PDF–798K

Select item 169855816.

PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

Shareef Khateeb, Hagit Flusser, Rivka Ofir, Ilan Shelef, Ginat Narkis, Gideon Vardi, Zamir Shorer, Rachel Levy, Aharon Galil, Khalil Elbedour, Ohad S. Birk

Am J Hum Genet. 2006 Nov; 79(5): 942–948. Published online 2006 Sep 19. doi: 10.1086/508572