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Select item 58334891.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Majida Charif, Alessia Nasca, Kyle Thompson, Sylvie Gerber, Christine Makowski, Neda Mazaheri, Céline Bris, David Goudenège, Andrea Legati, Reza Maroofian, Gholamreza Shariati, Eleonora Lamantea, Sila Hopton, Anna Ardissone, Isabella Moroni, Melania Giannotta, Corinna Siegel, Tim M. Strom, Holger Prokisch, Catherine Vignal-Clermont, Sabine Derrien, Xavier Zanlonghi, Josseline Kaplan, Christian P. Hamel, Stephanie Leruez, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Frances E. White, Steven A. Hardy, Inês A. Barbosa, Michael A. Simpson, Roshni Vara, Yaumara Perdomo Trujillo, Hamind Galehdari, Charu Deshpande, Tobias B. Haack, Jean-Michel Rozet, Robert W. Taylor, Daniele Ghezzi, Patrizia Amati-Bonneau, Guy Lenaers

JAMA Neurol. 2018 Jan; 75(1): 105–113. Published online 2017 Nov 27. doi: 10.1001/jamaneurol.2017.2065

PMCID:: PMC5833489

Abstract Article

Select item 95639362.

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families

Mazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, Ana C. González-Álvarez, Stefan T. Arold, Mohammad Anas Dababo, Omar A. Alharbi, Rawan Almass, AlBandary AlBakheet, Dalia AlSarar, Alya Qari, Mysoon M. Al-Ansari, Monika Oláhová, Saif A. Al-Shahrani, Moeenaldeen AlSayed, Dilek Colak, Robert W. Taylor, Mohammed AlOwain, Namik Kaya

Cells. 2022 Oct; 11(19): 3154. Published online 2022 Oct 7. doi: 10.3390/cells11193154

PMCID:: PMC9563936

Abstract Article PDF–3.5M

Select item 90973913.

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies

Aymane Bouzidi, Hicham Charoute, Majida Charif, Ghita Amalou, Mostafa Kandil, Abdelhamid Barakat, Guy Lenaers

Orphanet J Rare Dis. 2022; 17: 197. Published online 2022 May 12. doi: 10.1186/s13023-022-02340-7

PMCID:: PMC9097391

Abstract Article PDF–4.1M

Select item 83885614.

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with Optic Atrophy, Global Developmental Delay, Epilepsy, Ataxia, and Choreoathetosis

Alissa M. D’Gama, Eleina England, Jill A. Madden, Jiahai Shi, Katherine R. Chao, Monica H. Wojcik, Alcy R. Torres, Wen-Hann Tan, Gerard T. Berry, Sanjay P. Prabhu, Pankaj B. Agrawal

Am J Med Genet A. Author manuscript; available in PMC 2022 Jan 1.

Published in final edited form as: Am J Med Genet A. 2021 Jan; 185(1): 203–207. Published online 2020 Oct 9. doi: 10.1002/ajmg.a.61910

PMCID:: PMC8388561

Abstract Article PDF–268K

Select item 110515725.

Identification the Pathogen Cause a New Apple Leaf Blight in China and Determination the Controlling Efficacy for Five Botanical Fungicides

Enchen Li, Jia Liu, Shuwu Zhang, Bingliang Xu

J Fungi (Basel) 2024 Apr; 10(4): 255. Published online 2024 Mar 27. doi: 10.3390/jof10040255

PMCID:: PMC11051572

Abstract Article PDF–6.4M

Select item 108304216.

Mitochondrial matrix RTN4IP1/OPA10 is an oxidoreductase for coenzyme Q synthesis

Isaac Park, Kwang-eun Kim, Jeesoo Kim, Ae-Kyeong Kim, Subin Bae, Minkyo Jung, Jinhyuk Choi, Pratyush Kumar Mishra, Taek-Min Kim, Chulhwan Kwak, Myeong-Gyun Kang, Chang-Mo Yoo, Ji Young Mun, Kwang-Hyeon Liu, Kyu-Sun Lee, Jong-Seo Kim, Jae Myoung Suh, Hyun-Woo Rhee

Nat Chem Biol. 2024; 20(2): 221–233. Published online 2023 Oct 26. doi: 10.1038/s41589-023-01452-w

PMCID:: PMC10830421

Abstract Article PDF–8.0M

Select item 107873577.

Seven new species of Alternaria ( Pleosporales, Pleosporaceae) associated with Chinese fir, based on morphological and molecular evidence

Jiao He, De-Wei Li, Wen-Li Cui, Lin Huang

MycoKeys. 2024; 101: 1–44. Published online 2024 Jan 5. doi: 10.3897/mycokeys.101.115370

PMCID:: PMC10787357

Abstract Article PDF–14M

Select item 106351748.

Morphology and Molecular Characterization of a Fungus from the Alternaria alternata Species Complex Causing Black Spots on Pyrus sinkiangensis (Koerle pear)

Sein Lai Lai Aung, Hai Feng Liu, Dong Fang Pei, Bing Bin Lu, May Moe Oo, Jian Xin Deng

Mycobiology. 2020; 48(3): 233–239. Published online 2020 Apr 14. doi: 10.1080/12298093.2020.1745476

PMCID:: PMC10635174

Abstract Article PDF–1.5M

Select item 106304129.

Untargeted metabolomic analyses support the main phylogenetic groups of the common plant-associated Alternaria fungi isolated from grapevine (Vitis vinifera)

Anna Molnár, Dániel G. Knapp, Miklós Lovas, Gergő Tóth, Imre Boldizsár, Kálmán Zoltán Váczy, Gábor M. Kovács

Sci Rep. 2023; 13: 19298. Published online 2023 Nov 7. doi: 10.1038/s41598-023-46020-3

PMCID:: PMC10630412

Abstract Article PDF–2.0M

Select item 1060761610.

Molecular Characterization and Pathogenicity of Alternaria spp. Associated with Black Rot of Sweet Cherries in Italy

Muhammad Waqas, Simona Prencipe, Vladimiro Guarnaccia, Davide Spadaro

J Fungi (Basel) 2023 Oct; 9(10): 992. Published online 2023 Oct 7. doi: 10.3390/jof9100992

PMCID:: PMC10607616

Abstract Article PDF–1.3M

Select item 1053229511.

Four New Species of Small-Spored Alternaria Isolated from Solanum tuberosum and S. lycopersicum in China

Yanan Gou, Sein Lai Lai Aung, Zhuanjun Guo, Zhi Li, Shulin Shen, Jianxin Deng

J Fungi (Basel) 2023 Sep; 9(9): 880. Published online 2023 Aug 27. doi: 10.3390/jof9090880

PMCID:: PMC10532295

Abstract Article PDF–9.2M

Select item 986176112.

Alternaria alternata, the Causal Agent of a New Needle Blight Disease on Pinus bungeana

Mao-Jiao Zhang, Xiang-Rong Zheng, Huan Li, Feng-Mao Chen

J Fungi (Basel) 2023 Jan; 9(1): 71. Published online 2023 Jan 3. doi: 10.3390/jof9010071

PMCID:: PMC9861761

Abstract Article PDF–2.3M

Select item 963505213.

Alternaria species in section Alternaria associated with Iris plants in China

Ya-Nan Gou, Sein Lai Lai Aung, Aye Aye Htun, Cheng-Xin Huang, Jian-Xin Deng

Front Microbiol. 2022; 13: 1036950. Published online 2022 Oct 21. doi: 10.3389/fmicb.2022.1036950

PMCID:: PMC9635052

Abstract Article PDF–3.7M

Select item 799727214.

Characterization of Alternaria Species Associated with Heart Rot of Pomegranate Fruit

Francesco Aloi, Mario Riolo, Simona Marianna Sanzani, Annamaria Mincuzzi, Antonio Ippolito, Ilenia Siciliano, Antonella Pane, Maria Lodovica Gullino, Santa Olga Cacciola

J Fungi (Basel) 2021 Mar; 7(3): 172. Published online 2021 Feb 27. doi: 10.3390/jof7030172

PMCID:: PMC7997272

Abstract Article PDF–3.2M

Select item 477427015.

Alternaria section Alternaria: Species, formae speciales or pathotypes?

J.H.C. Woudenberg, M.F. Seidl, J.Z. Groenewald, M. de Vries, J.B. Stielow, B.P.H.J. Thomma, P.W. Crous

Stud Mycol. 2015 Sep; 82: 1–21. Published online 2015 Aug 25. doi: 10.1016/j.simyco.2015.07.001

PMCID:: PMC4774270

Abstract Article PDF–3.2M

Select item 1113600516.

Molecular epigenetics of Angelman syndrome

M. Lalande, M. A. Calciano

Cell Mol Life Sci. 2007 Apr; 64(7-8): 947. Published online 2007 Mar 8. doi: 10.1007/s00018-007-6460-0

PMCID:: PMC11136005

Abstract Article PDF–304K

Select item 1110552117.

Rab18: new insights into the function of an essential protein

Selma Yilmaz Dejgaard, John F. Presley

Cell Mol Life Sci. 2019 May; 76(10): 1935–1945. Published online 2019 Mar 4. doi: 10.1007/s00018-019-03050-3

PMCID:: PMC11105521

Abstract Article PDF–1.6M

Select item 1107522918.

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report

Shaoping Zhong, Jianying Liu, Yangye Lian, Binbin Zhou, Xin Wang, Jing Ding

BMC Neurol. 2024; 24: 154. Published online 2024 May 7. doi: 10.1186/s12883-024-03641-z

PMCID:: PMC11075229

Abstract Article PDF–3.1M

Select item 1100755819.

A challenging differential diagnosis - Leber’s Hereditary Optic Neuropathy

Raluca Eugenia Iorga, Răzvana Sorina Munteanu-Dănulescu, Ciprian Danielescu

Rom J Ophthalmol. 2024 Jan-Mar; 68(1): 65–71. doi: 10.22336/rjo.2024.13

PMCID:: PMC11007558

Abstract Article PDF–1.4M

Select item 1099468020.

Distribution of TGFBI variants in patients with early onset glaucoma

Viney Gupta, Arnav Panigrahi, Bindu I. Somarajan, Shikha Gupta, Koushik Tripathy, Abhishek Singh, Anshul Sharma, Radhika Tandon, Dibyabhaba Pradhan, Arundhati Sharma, Tushar Kushwaha, Krishna K. Inampudi

Mol Vis. 2023; 29: 365–377. Published online 2023 Dec 26.

PMCID:: PMC10994680

Abstract Article PDF–631K

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