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Select item 108292451.

Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation

Qiang Zhang, Qi Yang, Jingsi Luo, Xunzhao Zhou, Shang Yi, Shuyin Tan, Zailong Qin

BMC Med Genomics. 2024; 17: 44. Published online 2024 Jan 31. doi: 10.1186/s12920-024-01805-x

PMCID:: PMC10829245

Abstract Article PDF–1.3M

Select item 82228282.

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8

Sheng Yi, Yue Zhang, Zailong Qin, Shang Yi, Haiyang Zheng, Jingsi Luo, Qifei Li, Jin Wang, Qi Yang, Mengting Li, Fei Chen, Qiang Zhang, Qinle Zhang, Yiping Shen

Mol Genet Genomic Med. 2021 Jun; 9(6): e1683. Published online 2021 May 12. doi: 10.1002/mgg3.1683

PMCID:: PMC8222828

Abstract Article PDF–663K

Select item 82080453.

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy

Lauren C. Briere, Melissa A. Walker, Frances A. High, Cynthia Cooper, Cassandra A. Rogers, Christine J. Callahan, Ryosuke Ishimura, Yoshinobu Ichimura, Paul A. Caruso, Nutan Sharma, Elly Brokamp, Mary E. Koziura, Shekeeb S. Mohammad, Russell C. Dale, Lisa G. Riley, Undiagnosed Diseases Network, John A. Phillips, Masaaki Komatsu, David A. Sweetser

Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a005827. doi: 10.1101/mcs.a005827

PMCID:: PMC8208045

Abstract Article PDF–3.4M

Select item 82080444.

Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency

Mallory J. Owen, Jerica Lenberg, Annette Feigenbaum, Jeffrey Gold, Kevin Chau, Zaira Bezares-Orin, Yan Ding, Shimul Chowdhury, Stephen F. Kingsmore

Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a006091. doi: 10.1101/mcs.a006091

PMCID:: PMC8208044

Abstract Article PDF–2.0M

Select item 76433905.

Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report

Xiaojing Li, Bingwei Peng, Chi Hou, Jinliang Li, Yiru Zeng, Wenxiao Wu, Yinting Liao, Yang Tian, Wen-Xiong Chen

BMC Med Genet. 2020; 21: 217. Published online 2020 Nov 5. doi: 10.1186/s12881-020-01149-0

PMCID:: PMC7643390

Abstract Article PDF–2.2M

Select item 54773676.

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB

Alan O'Brien, Christian R Marshall, Susan Blaser, Peter N Ray, Grace Yoon

Eur J Hum Genet. 2017 Jun; 25(6): 775–778. Published online 2017 Apr 5. doi: 10.1038/ejhg.2017.39

PMCID:: PMC5477367

Abstract Article PDF–2.1M

Select item 49934517.

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients

Maha S. Zaki, Laila Selim, Hala T. EL-Bassyouni, Mahmoud Y. Issa, Iman Mahmoud, Samira Ismail, Mariane Girgis, Abdelrahim A. Sadek, Joseph G. Gleeson, Mohamed S. Abdel Hamid

Eur J Paediatr Neurol. Author manuscript; available in PMC 2016 Sep 1.

Published in final edited form as: Eur J Paediatr Neurol. 2016 Sep; 20(5): 714–722. Published online 2016 May 30. doi: 10.1016/j.ejpn.2016.05.011

PMCID:: PMC4993451

Abstract Article PDF–1.7M

Select item 46767538.

Dong-Hui Chen, Aurélie Méneret, Jennifer R. Friedman, Olena Korvatska, Alona Gad, Emily S. Bonkowski, Holly A. Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim, Saunder Bernes, Marie Y. Davis, Nathalie Damon-Perrière, Bertrand Degos, David Grabli, Domitille Gras, Fuki M. Hisama, Katherine M. Mackenzie, Phillip D. Swanson, Christine Tranchant, Marie Vidailhet, Steven Winesett, Oriane Trouillard, Laura M. Amendola, Michael O. Dorschner, Michael Weiss, Evan E. Eichler, Ali Torkamani, Emmanuel Roze, Thomas D. Bird, Wendy H. Raskind

Neurology. 2015 Dec 8; 85(23): 2026–2035. doi: 10.1212/WNL.0000000000002058

PMCID:: PMC4676753

Abstract Article PDF–671K

Select item 41811619.

Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene

Udhaya H. Kotecha, Sireesha Movva, Deepak Sharma, Jyotsna Verma, Ratna Dua Puri, Ishwar Chander Verma

Indian J Med Res. 2014 Jul; 140(1): 55–59.

PMCID:: PMC4181161

Abstract Article PDF–1.5M

Select item 1098822810.

Cervicothoracic ventral-dorsal rhizotomy for bilateral upper-extremity hypertonia in cerebral palsy: illustrative case

Ryan Kelly, Hanna R Kemeny, Sunny Abdelmageed, Robin Trierweiler, Tim Krater, Melissa A LoPresti, Jeffrey S Raskin

J Neurosurg Case Lessons. 2024 Apr 1; 7(14): CASE2438. Published online 2024 Apr 1. doi: 10.3171/CASE2438

PMCID:: PMC10988228

Abstract Article PDF–639K

Select item 1082943311.

A Rare Cause of Intellectual Disability

Íris Oliveira, Andreia Fernandes, Mafalda Pereira, Márcia Rodrigues, Noémia Silva, Carla Mendonça

Cureus. 2024 Jan; 16(1): e51451. Published online 2024 Jan 1. doi: 10.7759/cureus.51451

PMCID:: PMC10829433

Abstract Article PDF–530K

Select item 1066893812.

Immediate Effects of TECAR Therapy on Gastrocnemius and Quadriceps Muscles with Spastic Hypertonia in Chronic Stroke Survivors: A Randomized Controlled Trial

Laura García-Rueda, Rosa Cabanas-Valdés, Carina Salgueiro, Jacobo Rodríguez-Sanz, Albert Pérez-Bellmunt, Carlos López-de-Celis

Biomedicines. 2023 Nov; 11(11): 2973. Published online 2023 Nov 4. doi: 10.3390/biomedicines11112973

PMCID:: PMC10668938

Abstract Article PDF–1.3M

Select item 1064524713.

A Study of Organophosphorus Induced Delayed Myelopathy: Uncommon Sequelae of a Common Poisoning

Camelia Porey, Menka Jha, Sanjeev Kumar Bhoi, Priyanka Samal, Suprava Naik

Ann Indian Acad Neurol. 2023 Jul-Aug; 26(4): 469–474. Published online 2023 Apr 28. doi: 10.4103/aian.aian_19_23

PMCID:: PMC10645247

Abstract Article PDF–1.0M

Select item 1022386714.

Increasing the Passive Range of Joint Motion in Stroke Patients Using Botulinum Toxin: The Role of Pain Relief

Carlo Trompetto, Lucio Marinelli, Laura Mori, Nicola Bragazzi, Giulia Maggi, Filippo Cotellessa, Luca Puce, Lucilla Vestito, Franco Molteni, Giulio Gasperini, Nico Farina, Luciano Bissolotti, Francesco Sciarrini, Marzia Millevolte, Fabrizio Balestrieri, Domenico Antonio Restivo, Carmelo Chisari, Andrea Santamato, Alessandra Del Felice, Paolo Manganotti, Carlo Serrati, Antonio Currà

Toxins (Basel) 2023 May; 15(5): 335. Published online 2023 May 13. doi: 10.3390/toxins15050335

PMCID:: PMC10223867

Abstract Article PDF–1.2M

Select item 949036815.

Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia

Guilan Xie, Yan Zhang, Wenfang Yang, Liren Yang, Ruiqi Wang, Mengmeng Xu, Landi Sun, Boxing Zhang, Xiaoyi Cui

Front Genet. 2022; 13: 856636. Published online 2022 Sep 7. doi: 10.3389/fgene.2022.856636

PMCID:: PMC9490368

Abstract Article PDF–1.0M

Select item 931385016.

Molybdenum cofactor deficiency: A natural history

Ronen Spiegel, Bernd C. Schwahn, Liza Squires, Nils Confer

J Inherit Metab Dis. 2022 May; 45(3): 456–469. Published online 2022 Mar 3. doi: 10.1002/jimd.12488

PMCID:: PMC9313850

Abstract Article PDF–2.0M

Select item 906540417.

Novel Heterozygous Missense Variant in GRIA4 Gene Associated With Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities

Hua Wang, Jiatong Liu, Fuwei Li, Ziteng Teng, Mingyu Liu, Weiyue Gu

Front Genet. 2022; 13: 859140. Published online 2022 Apr 20. doi: 10.3389/fgene.2022.859140

PMCID:: PMC9065404

Abstract Article PDF–1.9M

Select item 786209718.

Daniel G. Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T. Emrick, Hsiao-Tuan Chao

Neurol Genet. 2021 Feb; 7(1): e539. Published online 2020 Dec 17. doi: 10.1212/NXG.0000000000000539

PMCID:: PMC7862097

Abstract Article PDF–958K

Select item 740497819.

Over 25 Years of Pediatric Botulinum Toxin Treatments: What Have We Learned from Injection Techniques, Doses, Dilutions, and Recovery of Repeated Injections?

Heli Sätilä

Toxins (Basel) 2020 Jul; 12(7): 440. Published online 2020 Jul 6. doi: 10.3390/toxins12070440

PMCID:: PMC7404978

Abstract Article PDF–729K

Select item 696266620.

Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5‐Dyskinesia

Dong‐Hui Chen, Caitlin S. Latimer, Min Spencer, Prasanthi Karna, Luis F. Gonzalez‐Cuyar, Marie Y. Davis, C. Dirk Keene, Thomas D. Bird, Wendy H. Raskind

Mov Disord Clin Pract. 2020 Jan; 7(1): 70–77. Published online 2019 Dec 14. doi: 10.1002/mdc3.12873

PMCID:: PMC6962666

Abstract Article PDF–10M

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