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Select item 108969781.

A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients

Van Khanh Tran, My Ha Cao, Thi Thanh Hai Nguyen, Phuong Thi Le, Hai Anh Tran, Dung Chi Vu, Ha Thu Nguyen, Mai Thi Phương Nguyen, The-Hung Bui, Thanh Binh Nguyen, Thanh Van Ta, Thinh Huy Tran

Front Pediatr. 2024; 12: 1165492. Published online 2024 Feb 13. doi: 10.3389/fped.2024.1165492

PMCID:: PMC10896978

Article PDF–4.4M

Select item 106908082.

Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review

Yuan Tian, Jinfang Xing, Ying Shi, Enwu Yuan

Front Neurosci. 2023; 17: 1252075. Published online 2023 Nov 17. doi: 10.3389/fnins.2023.1252075

PMCID:: PMC10690808

Article PDF–1.5M

Select item 99773103.

ABT1 modifies SMARD1 pathology via interactions with IGHMBP2 and stimulation of ATPase and helicase activity

Gangadhar P. Vadla, Sara M. Ricardez Hernandez, Jiude Mao, Mona O. Garro-Kacher, Zachary C. Lorson, Ronin P. Rice, Sarah A. Hansen, Christian L. Lorson, Kamal Singh, Monique A. Lorson

JCI Insight. 2023 Jan 24; 8(2): e164608. Published online 2023 Jan 24. doi: 10.1172/jci.insight.164608

PMCID:: PMC9977310

Article PDF–7.2M

Select item 91483504.

Point-of-care lung and diaphragm ultrasound in a patient with spinal muscular atrophy with respiratory distress type 1

Beatrice Berti, Danilo Buonsenso, Cristina De Rose, Gloria Ferrantini, Roberto De Sanctis, Nicola Forcina, Eugenio Mercuri, Marika Pane

J Ultrasound. 2022 Jun; 25(2): 395–398. Published online 2021 Apr 13. doi: 10.1007/s40477-021-00584-w

PMCID:: PMC9148350

Article PDF–591K

Select item 91420815.

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene

Agnieszka Stembalska, Małgorzata Rydzanicz, Wojciech Walas, Piotr Gasperowicz, Agnieszka Pollak, Victor Murcia Pienkowski, Mateusz Biela, Magdalena Klaniewska, Zuzanna Gamrot, Ewa Gronska, Rafal Ploski, Robert Smigiel

Genes (Basel) 2022 May; 13(5): 725. Published online 2022 Apr 21. doi: 10.3390/genes13050725

PMCID:: PMC9142081

Article PDF–1.0M

Select item 86099796.

Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulism

Juan Cardenas, Jose Cardenas, Andrew Lee, Martha Brown, Fernando Galan, Jason Scimeme, Anatalia Labilloy

Cureus. 2021 Oct; 13(10): e19006. Published online 2021 Oct 24. doi: 10.7759/cureus.19006

PMCID:: PMC8609979

Article PDF–435K

Select item 69916287.

Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights

Matteo Saladini, Monica Nizzardo, Alessandra Govoni, Michela Taiana, Nereo Bresolin, Giacomo P. Comi, Stefania Corti

J Cell Mol Med. 2020 Jan; 24(2): 1169–1178. Published online 2019 Dec 4. doi: 10.1111/jcmm.14874

PMCID:: PMC6991628

Article PDF–516K

Select item 64060398.

Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1

Young A Kim, Hye Young Jin, Yoo-Mi Kim

J Korean Med Sci. 2019 Mar 11; 34(9): e54. Published online 2019 Feb 7. doi: 10.3346/jkms.2019.34.e54

PMCID:: PMC6406039

Article PDF–1.5M

Select item 61278759.

A Direct Comparison of IV and ICV Delivery Methods for Gene Replacement Therapy in a Mouse Model of SMARD1

Monir Shababi, Eric Villalón, Kevin A. Kaifer, Vince DeMarco, Christian L. Lorson

Mol Ther Methods Clin Dev. 2018 Sep 21; 10: 348–360. Published online 2018 Aug 17. doi: 10.1016/j.omtm.2018.08.005

PMCID:: PMC6127875

Article PDF–3.9M

Select item 594659810.

Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation

Annie Ting Gee Chiu, Sophelia Hoi Shan Chan, Shun Ping Wu, Shun Hin Ting, Brian Hon Yin Chung, Angel On Kei Chan, Virginia Chun Nei Wong

Child Neurol Open. 2018; 5: 2329048X18769811. Published online 2018 Apr 19. doi: 10.1177/2329048X18769811

PMCID:: PMC5946598

Article PDF–637K

Select item 588615511.

Selective vulnerability in neuronal populations in nmd/SMARD1 mice

Eric Villalón, Monir Shababi, Rachel Kline, Zachary C Lorson, Kyra M Florea, Christian L Lorson

Hum Mol Genet. 2018 Feb 15; 27(4): 679–690. Published online 2017 Dec 20. doi: 10.1093/hmg/ddx434

PMCID:: PMC5886155

Article PDF–1.1M

Select item 498096812.

Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature

Lokesh Lingappa, Nikit Shah, Ananth Sagar Motepalli, Farhan Shaik

Ann Indian Acad Neurol. 2016 Jul-Sep; 19(3): 395–398. doi: 10.4103/0972-2327.168635

PMCID:: PMC4980968

Article PDF–589K

Select item 480640513.

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) : Report of a Spanish case with extended clinicopathological follow-up

Beatriz San Millan, Jose M. Fernandez, Carmen Navarro, Alfredo Reparaz, Susana Teijeira

Clin Neuropathol. 2016 Mar-Apr; 35(2): 58–65. Published online 2015 Dec 28. doi: 10.5414/NP300902

PMCID:: PMC4806405

Article PDF–3.7M

Select item 464382914.

Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model

Monica Nizzardo, Chiara Simone, Federica Rizzo, Sabrina Salani, Sara Dametti, Paola Rinchetti, Roberto Del Bo, Kevin Foust, Brian K. Kaspar, Nereo Bresolin, Giacomo P. Comi, Stefania Corti

Sci Adv. 2015 Mar; 1(2): e1500078. Published online 2015 Mar 13. doi: 10.1126/sciadv.1500078

PMCID:: PMC4643829

Article PDF–2.2M

Select item 411638815.

Differentiation defects in primary motoneurons from a SMARD1 mouse model that are insensitive to treatment with low dose PEGylated IGF1

Frank Krieger, Friedrich Metzger, Sibylle Jablonka

Rare Dis. 2014; 2: e29415. Published online 2014 Jun 10. doi: 10.4161/rdis.29415

PMCID:: PMC4116388

Article PDF–879K

Select item 361190916.

Heterogeneity in spinal muscular atrophy with respiratory distress type 1

Aziz Majid, Khan Talat, Lumsden Colin, Ross Caroline, Kingston Helen, De Goede Christian

J Pediatr Neurosci. 2012 Sep-Dec; 7(3): 197–199. doi: 10.4103/1817-1745.106478

PMCID:: PMC3611909

Article

Select item 308569417.

Infantile-onset Spinal Muscular Atrophy with Respiratory Distress-1 diagnosed in twenty-year old man

Tyler Mark Pierson, Gary Tart, David Adams, Camilo Toro, Gretchen Golas, Cynthia Tifft, William Gahl

Neuromuscul Disord. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Neuromuscul Disord. 2011 May; 21(5): 353–355. Published online 2011 Feb 25. doi: 10.1016/j.nmd.2011.02.005

PMCID:: PMC3085694

Article PDF–32K

Select item 1007750018.

Clinically relevant mouse models of Charcot–Marie–Tooth type 2S

Paige B Martin, Sarah E Holbrook, Amy N Hicks, Timothy J Hines, Laurent P Bogdanik, Robert W Burgess, Gregory A Cox

Hum Mol Genet. 2023 Apr 15; 32(8): 1276–1288. Published online 2022 Nov 22. doi: 10.1093/hmg/ddac283

PMCID:: PMC10077500

Article PDF–2.0M

Select item 945635019.

Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model

Weronika Rzepnikowska, Joanna Kaminska, Andrzej Kochański

Int J Mol Sci. 2022 Sep; 23(17): 9913. Published online 2022 Aug 31. doi: 10.3390/ijms23179913

PMCID:: PMC9456350

Article PDF–1.9M

Select item 630221920.

IGHMBP2 mutation associated with organ-specific autonomic dysfunction

Pedro J. Tomaselli, Alejandro Horga, Alexander M. Rossor, Zane Jaunmuktane, Andrea Cortese, Julian C. Blake, Natalia Zarate-Lopez, Henry Houlden, Mary M. Reilly

Neuromuscul Disord. 2018 Dec; 28(12): 1012–1015. doi: 10.1016/j.nmd.2018.08.010