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Select item 91483501.

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

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Select item 91420812.

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

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Select item 86099793.

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

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Select item 69916284.

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

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Select item 64060395.

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

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Select item 61278756.

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

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Select item 59465987.

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

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Select item 58861558.

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

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Select item 49809689.

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

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Select item 480640510.

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

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Select item 464382911.

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

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Select item 411638812.

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

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Select item 361190913.

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

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Select item 308569414.

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

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Select item 1007750015.

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

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Select item 945635016.

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

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Select item 630221917.

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

PMCID:: PMC6302219

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Select item 422564718.

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

Ellen Cottenie, Andrzej Kochanski, Albena Jordanova, Boglarka Bansagi, Magdalena Zimon, Alejandro Horga, Zane Jaunmuktane, Paola Saveri, Vedrana Milic Rasic, Jonathan Baets, Marina Bartsakoulia, Rafal Ploski, Pawel Teterycz, Milos Nikolic, Ros Quinlivan, Matilde Laura, Mary G. Sweeney, Franco Taroni, Michael P. Lunn, Isabella Moroni, Michael Gonzalez, Michael G. Hanna, Conceicao Bettencourt, Elodie Chabrol, Andre Franke, Katja von Au, Markus Schilhabel, Dagmara Kabzińska, Irena Hausmanowa-Petrusewicz, Sebastian Brandner, Siew Choo Lim, Haiwei Song, Byung-Ok Choi, Rita Horvath, Ki-Wha Chung, Stephan Zuchner, Davide Pareyson, Matthew Harms, Mary M. Reilly, Henry Houlden

Am J Hum Genet. 2014 Nov 6; 95(5): 590–601. doi: 10.1016/j.ajhg.2014.10.002

PMCID:: PMC4225647

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Select item 350597619.

The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1

Siew Choo Lim, Matthew W. Bowler, Ting Feng Lai, Haiwei Song

Nucleic Acids Res. 2012 Nov; 40(21): 11009–11022. Published online 2012 Sep 8. doi: 10.1093/nar/gks792

PMCID:: PMC3505976

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Select item 135030420.

Dilated cardiomyopathy (DCM) in the nmd mouse: Transgenic rescue and QTLs that improve cardiac function and survival.

Terry P. Maddatu, Sean M. Garvey, David G. Schroeder, Wiedong Zhang, Soh-Yule Kim, Anthony I. Nicholson, Crystal J. Davis, Gregory A. Cox

Hum Mol Genet. Author manuscript; available in PMC 2006 Jan 25.

Published in final edited form as: Hum Mol Genet. 2005 Nov 1; 14(21): 3179–3189. Published online 2005 Sep 20. doi: 10.1093/hmg/ddi349

PMCID:: PMC1350304

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