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Items: 1 to 20 of 308

1.
Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement
Jung-Hwan Oh, Han Sang Lee, Dong Min Cha, Sa-Yoon Kang
Exp Neurobiol. 2014 Sep; 23(3): 266–269. Published online 2014 Sep 18. doi: 10.5607/en.2014.23.3.266
PMCID:
PMC4174619
ArticlePubReaderPDF–2.4MCite
2.
Structural and Functional Measures of Inner Retinal Integrity Following Visual Acuity Improvement in a Patient with Hereditary Motor and Sensory Neuropathy Type VI
Sowjanya Gowrisankaran, Anastasios Anastasakis, Gerald A. Fishman, Kenneth R. Alexander
Ophthalmic Genet. Author manuscript; available in PMC 2012 Sep 1.
Published in final edited form as: Ophthalmic Genet. 2011 Sep; 32(3): 188–192. Published online 2011 Jun 27. doi: 10.3109/13816810.2011.587859
PMCID:
PMC3155637
ArticlePubReaderPDF–2.0MCite
3.
Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.
R M Chalmers, P Riordan-Eva, N W Wood
J Neurol Neurosurg Psychiatry. 1997 Apr; 62(4): 385–387. doi: 10.1136/jnnp.62.4.385
PMCID:
PMC1074097
SummaryPage BrowsePDF–560KCite
4.
Loss of FZO1 gene results in changes of cell dynamics in fission yeast
Rongmei Yuan, Xiang Ding, Xiumei Tan, Yiling Hou
Int J Mol Med. 2020 Dec; 46(6): 2194–2206. Published online 2020 Oct 12. doi: 10.3892/ijmm.2020.4752
PMCID:
PMC7595653
ArticlePubReaderPDF–2.1MCite
5.
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation
Jesse Slone, Yanyan Peng, Adam Chamberlin, Belinda Harris, Julie Kaylor, Marie T. McDonald, Monica Lemmon, Mays Antonine El-Dairi, Dmitry Tchapyjnikov, Laura A Gonzalez-Krellwitz, Elizabeth A. Sellars, Allyn McConkie-Rosell, Laura G. Reinholdt, Taosheng Huang
J Hum Genet. Author manuscript; available in PMC 2019 Jun 1.
Published in final edited form as: J Hum Genet. 2018 Dec; 63(12): 1211–1222. Published online 2018 Sep 25. doi: 10.1038/s10038-018-0515-y
PMCID:
PMC6451867
ArticlePubReaderPDF–3.6MCite
6.
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy
Arianna Tucci, Yo-Tsen Liu, Elisabeth Preza, Robert D S Pitceathly, Annapurna Chalasani, Vincent Plagnol, John M Land, Daniah Trabzuni, Mina Ryten, on behalf of UKBEC, Zane Jaunmuktane, Mary M Reilly, Sebastian Brandner, Iain Hargreaves, John Hardy, Andrew B Singleton, Andrey Y Abramov, Henry Houlden
J Neurol Neurosurg Psychiatry. 2014 May; 85(5): 486–492. Published online 2013 Nov 6. doi: 10.1136/jnnp-2013-306387
PMCID:
PMC3995331
ArticlePubReaderPDF–1.1MCite
7.
LC-MS and Transcriptome Analysis of Lipopeptide Biosynthesis by Bacillus velezensis CMT-6 Responding to Dissolved Oxygen
Qi Deng, Haisheng Lin, Meifang Hua, Lijun Sun, Yuehua Pu, Jianmeng Liao, Zhijia Fang, Saiyi Zhong, Ravi Gooneratne
Molecules. 2022 Oct; 27(20): 6822. Published online 2022 Oct 12. doi: 10.3390/molecules27206822
PMCID:
PMC9607200
ArticlePubReaderPDF–2.0MCite
8.
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene
Sanna Puusepp, Karit Reinson, Sander Pajusalu, André B.P. van Kuilenburg, Doreen Dobritzsch, Jeroen Roelofsen, Werner Stenzel, Katrin Õunap
Mol Genet Metab Rep. 2020 Dec; 25: 100677. Published online 2020 Nov 18. doi: 10.1016/j.ymgmr.2020.100677
PMCID:
PMC7689168
ArticlePubReaderPDF–1.8MCite
9.
Effects of chemically modified tetracyclines (CMTs) in sensitive, multidrug resistant and apoptosis resistant leukaemia cell lines
Manlio Tolomeo, Stefania Grimaudo, Salvatore Milano, Marzia La Rosa, Viviana Ferlazzo, Gloria Di Bella, Caterina Barbera, Daniele Simoni, Pietro D'Agostino, Enrico Cillari
Br J Pharmacol. 2001 May; 133(2): 306–314. doi: 10.1038/sj.bjp.0704068
Correction in:
Br J Pharmacol. 2002 Mar; 135(6): 1588.
PMCID:
PMC1572778
ArticlePubReaderPDF–236KCite
10.
Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal
Yukio Ando, Marcia Waddington-Cruz, Yoshiki Sekijima, Haruki Koike, Mitsuharu Ueda, Hiroaki Konishi, Tomonori Ishii, Teresa Coelho
Orphanet J Rare Dis. 2023; 18: 323. Published online 2023 Oct 12. doi: 10.1186/s13023-023-02910-3
PMCID:
PMC10571420
ArticlePubReaderPDF–1.5MCite
11.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants
Christopher J Record, Mariola Skorupinska, Matilde Laura, Alexander M Rossor, Davide Pareyson, Chiara Pisciotta, Shawna M E Feely, Thomas E Lloyd, Rita Horvath, Reza Sadjadi, David N Herrmann, Jun Li, David Walk, Sabrina W Yum, Richard A Lewis, John Day, Joshua Burns, Richard S Finkel, Mario A Saporta, Sindhu Ramchandren, Michael D Weiss, Gyula Acsadi, Vera Fridman, Francesco Muntoni, Roy Poh, James M Polke, Stephan Zuchner, Michael E Shy, Steven S Scherer, Mary M Reilly, for the Inherited Neuropathies Consortium—Rare Disease Clinical Research Network
Brain. 2023 Oct; 146(10): 4336–4349. Published online 2023 Jun 7. doi: 10.1093/brain/awad187
PMCID:
PMC10545504
ArticlePubReaderPDF–564KCite
12.
Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families
Mahmoud Reza Ashrafi, Ali Zare Dehnavi, Ali Reza Tavasoli, Morteza Heidari, Masoud Ghahvechi Akbari, Ali Reza Ronagh, Mohammad Ghafouri, Nejat Mahdieh, Pouria Mohammadi, Zahra Rezaei
Mol Genet Genomic Med. 2023 Jun; 11(6): e2159. Published online 2023 Mar 3. doi: 10.1002/mgg3.2159
PMCID:
PMC10265088
ArticlePubReaderPDF–7.3MCite
13.
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
Justyna Paprocka, Aleksandra Jezela-Stanek, Robert Śmigiel, Anna Walczak, Hanna Mierzewska, Anna Kutkowska-Kaźmierczak, Rafał Płoski, Ewa Emich-Widera, Barbara Steinborn
Genes (Basel) 2023 May; 14(5): 972. Published online 2023 Apr 25. doi: 10.3390/genes14050972
PMCID:
PMC10217861
ArticlePubReaderPDF–263KCite
14.
Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment
Grace McMacken, Roger G. Whittaker, Ruth Wake, Hanns Lochmuller, Rita Horvath
J Neurol. 2023; 270(6): 3112–3119. Published online 2023 Mar 4. doi: 10.1007/s00415-023-11643-z
PMCID:
PMC10188419
ArticlePubReaderPDF–717KCite
15.
脊柱侧凸合并感音神经性聋相关综合征遗传学研究进展
吴 侃, 李 竹梅, 张 秋静
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Jun 5; 35(6): 556–562. Chinese. doi: 10.13201/j.issn.2096-7993.2021.06.017
PMCID:
PMC10128594
ArticlePubReaderPDF–862KCite
16.
Drosophila SPG12 ortholog, reticulon-like 1, governs presynaptic ER organization and Ca2+ dynamics
Juan José Pérez-Moreno, Rebecca C. Smith, Megan K. Oliva, Filomena Gallo, Shainy Ojha, Karin H. Müller, Cahir J. O’Kane
J Cell Biol. 2023 Jun 5; 222(6): e202112101. Published online 2023 Mar 23. doi: 10.1083/jcb.202112101
PMCID:
PMC10072275
ArticlePubReaderPDF–12MCite
17.
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST
Alisa Mo, Afshin Saffari, Melanie Kellner, Marion Döbler-Neumann, Catherine Jordan, Siddharth Srivastava, Bo Zhang, Mustafa Sahin, John K. Fink, Linsley Smith, Jennifer E. Posey, Katharine E. Alter, Camilo Toro, Craig Blackstone, Ariane G. Soldatos, Michelle Christie, Rebecca Schüle, Darius Ebrahimi-Fakhari
Mov Disord. Author manuscript; available in PMC 2023 Mar 30.
Published in final edited form as: Mov Disord. 2022 Dec; 37(12): 2440–2446. Published online 2022 Sep 14. doi: 10.1002/mds.29225
PMCID:
PMC10062395
ArticlePubReaderPDF–558KCite
18.
Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, hypomyelination, and spastic paraplegia
Daniel G. Calame, Isabella Herman, Aren E. Marshall, Reza Maroofian, Karina Carvalho Donis, Jawid M. Fatih, Tadahiro Mitani, Haowei Du, Christopher M. Grochowski, Sergio Sousa, Somayeh Bakhtiari, Yoko A. Ito, Clarissa Rocca, Jill V. Hunter, V. Reid Sutton, Lisa T. Emrick, Kym M. Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal W. Saadi, Maha S. Zaki, David L. Skidmore, Matthew Osmond, Thiago Oliveira Silva, Henry Houlden, David Murphy, Ehsan Ghayoorarimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Zeynep Coban-Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N. Jhangiani, Richard A. Gibbs, Jennifer E. Posey, Michael C. Kruer, Kristin D. Kernohan, Jonas A. Morales Saute, Adeline Vanderver, Davut Pehlivan, Dana Marafi, James R. Lupski
Ann Neurol. Author manuscript; available in PMC 2023 Aug 1.
Published in final edited form as: Ann Neurol. 2022 Aug; 92(2): 304–321. Published online 2022 May 28. doi: 10.1002/ana.26381
PMCID:
PMC10054521
ArticlePubReaderPDF–2.7MCite
19.
Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia
Shih‐Yu Fang, Ying‐Tsen Chou, Kuo‐Chou Hsu, Shao‐Lun Hsu, Kai‐Wei Yu, Yu‐Shuen Tsai, Yi‐Chu Liao, Pei‐Chien Tsai, Yi‐Chung Lee
Ann Clin Transl Neurol. 2023 Mar; 10(3): 353–362. Published online 2023 Jan 6. doi: 10.1002/acn3.51724
PMCID:
PMC10014004
ArticlePubReaderPDF–2.1MCite
20.
Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis
Seyed-Mohammad Fereshtehnejad, Philip A. Saleh, Lais M. Oliveira, Neha Patel, Suvorit Bhowmick, Gerard Saranza, Lorraine V. Kalia
Neurol Sci. 2023; 44(3): 947–959. Published online 2022 Nov 28. doi: 10.1007/s10072-022-06516-8
PMCID:
PMC9925593
ArticlePubReaderPDF–2.3MCite

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