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Select item 99902231.

Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation

Yazhao Mei, Yunyi Jiang, Zhenlin Zhang, Hao Zhang

BMC Med Genomics. 2023; 16: 47. Published online 2023 Mar 7. doi: 10.1186/s12920-023-01472-4

PMCID:: PMC9990223

Abstract Article PDF–2.9M

Select item 89685322.

Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)

Iqra Aziz, Mark Davis, Christina Liang

BMJ Case Rep. 2022; 15(3): e248297. Published online 2022 Mar 29. doi: 10.1136/bcr-2021-248297

PMCID:: PMC8968532

Abstract Article PDF–654K

Select item 48079053.

A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance

Qi Niu, Xingxia Wang, Mingchao Shi, Qingwen Jin

Neurol Genet. 2015 Aug; 1(2): e20. Published online 2015 Jul 16. doi: 10.1212/NXG.0000000000000017

PMCID:: PMC4807905

Article PDF–355K

Select item 43517144.

Exome Sequencing Identifies DYNC1H1 Variant Associated with Vertebral Abnormality and SMA-LED

Jaya Punetha, Soledad Monges, Maria Emilia Franchi, Eric P Hoffman, Sebahattin Cirak, Carolina Tesi-Rocha

Pediatr Neurol. Author manuscript; available in PMC 2016 Feb 1.

Published in final edited form as: Pediatr Neurol. 2015 Feb; 52(2): 239–244. Published online 2014 Oct 5. doi: 10.1016/j.pediatrneurol.2014.09.003

PMCID:: PMC4351714

Abstract Article PDF–426K

Select item 29184785.

Dominant spinal muscular atrophy with lower extremity predominance: Linkage to 14q32

M.B. Harms, P. Allred, R. Gardner, Jr., J.A. Fernandes Filho, J. Florence, A. Pestronk, M. Al-Lozi, R.H. Baloh

Neurology. 2010 Aug 10; 75(6): 539–546. doi: 10.1212/WNL.0b013e3181ec800c

PMCID:: PMC2918478

Abstract Article PDF–2.2M

Select item 100953736.

Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants

Andreas Unger, Andreas Roos, Andrea Gangfuß, Andreas Hentschel, Dieter Gläser, Karsten Krause, Kristina Doering, Ulrike Schara-Schmidt, Sabine Hoffjan, Matthias Vorgerd, Anne-Katrin Güttsches

Int J Mol Sci. 2023 Apr; 24(7): 6808. Published online 2023 Apr 6. doi: 10.3390/ijms24076808

PMCID:: PMC10095373

Abstract Article PDF–2.8M

Select item 99769827.

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases

Alberto A Zambon, Veronica Pini, Luca Bosco, Yuri M Falzone, Pinki Munot, Francesco Muntoni, Stefano C Previtali

Brain. 2023 Mar; 146(3): 806–822. Published online 2022 Nov 29. doi: 10.1093/brain/awac452

PMCID:: PMC9976982

Abstract Article PDF–816K

Select item 84102328.

Review: Cytoplasmic dynein motors in photoreceptors

Tiffanie M. Dahl, Wolfgang Baehr

Mol Vis. 2021; 27: 506–517. Published online 2021 Sep 1.

PMCID:: PMC8410232

Abstract Article PDF–4.2M

Select item 53385149.

DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein–dynactin–cargo adaptor complexes

Ha Thi Hoang, Max A. Schlager, Andrew P. Carter, Simon L. Bullock

Proc Natl Acad Sci U S A. 2017 Feb 28; 114(9): E1597–E1606. Published online 2017 Feb 14. doi: 10.1073/pnas.1620141114

PMCID:: PMC5338514

Abstract Article PDF–1.9M

Select item 457382910.

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

Alleene V. Strickland, Maria Schabhüttl, Hans Offenbacher, Matthis Synofzik, Natalie S. Hauser, Michaela Brunner-Krainz, Ursula Gruber-Sedlmayr, Steven A. Moore, Reinhard Windhager, Benjamin Bender, Matthew Harms, Stephan Klebe, Peter Young, Marina Kennerson, Avencia Sanchez Mejias Garcia, Michael A. Gonzalez, Stephan Züchner, Rebecca Schule, Michael E. Shy, Michaela Auer-Grumbach

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

Published in final edited form as: J Neurol. 2015 Sep; 262(9): 2124–2134. Published online 2015 Jun 24. doi: 10.1007/s00415-015-7727-2

PMCID:: PMC4573829

Abstract Article PDF–714K

Select item 433610511.

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

Mariacristina Scoto, Alexander M. Rossor, Matthew B. Harms, Sebahattin Cirak, Mattia Calissano, Stephanie Robb, Adnan Y. Manzur, Amaia Martínez Arroyo, Aida Rodriguez Sanz, Sahar Mansour, Penny Fallon, Irene Hadjikoumi, Andrea Klein, Michele Yang, Marianne De Visser, W.C.G. (Truus) Overweg-Plandsoen, Frank Baas, J. Paul Taylor, Michael Benatar, Anne M. Connolly, Muhammad T. Al-Lozi, John Nixon, Christian G.E.L. de Goede, A. Reghan Foley, Catherine Mcwilliam, Matthew Pitt, Caroline Sewry, Rahul Phadke, Majid Hafezparast, W.K. “Kling” Chong, Eugenio Mercuri, Robert H. Baloh, Mary M. Reilly, Francesco Muntoni

Neurology. 2015 Feb 17; 84(7): 668–679. doi: 10.1212/WNL.0000000000001269

PMCID:: PMC4336105

Abstract Article PDF–1.0M

Select item 410968312.

Novel dynein DYNC1H1 neck and motor domain mutations link distal SMA and abnormal cortical development

Chiara Fiorillo, Francesca Moro, Julie Yi, Sarah Weil, Giacomo Brisca, Guja Astrea, Mariasavina Severino, Alessandro Romano, Roberta Battini, Andrea Rossi, Carlo Minetti, Claudio Bruno, Filippo M. Santorelli, Richard Vallee

Hum Mutat. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Hum Mutat. 2014 Mar; 35(3): 298–302. Published online 2014 Jan 3. doi: 10.1002/humu.22491

PMCID:: PMC4109683

Abstract Article PDF–618K

Select item 374818013.

Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age

Judith Eschbach, Jérome Sinniger, Jamal Bouitbir, Anissa Fergani, Joffrey Zoll, Bernard Geny, Frédérique Rene, Yves Larmet, Robert H. Baloh, Matthew B. Harms, Michael E. Shy, Nadia Messadeq, Patrick Weydt, Jean-Philippe Loeffler, Albert C. Ludolph, Luc Dupuis

Neurobiol Dis. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Neurobiol Dis. 2013 Oct; 58: 220–230. Published online 2013 Jun 4. doi: 10.1016/j.nbd.2013.05.015

PMCID:: PMC3748180

Abstract Article PDF–3.9M

Select item 367523714.

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

Kornelia Neveling, Lilian A. Martinez-Carrera, Irmgard Hölker, Angelien Heister, Aad Verrips, Seyyed Mohsen Hosseini-Barkooie, Christian Gilissen, Sascha Vermeer, Maartje Pennings, Rowdy Meijer, Margot te Riele, Catharina J.M. Frijns, Oksana Suchowersky, Linda MacLaren, Sabine Rudnik-Schöneborn, Richard J. Sinke, Klaus Zerres, R. Brian Lowry, Henny H. Lemmink, Lutz Garbes, Joris A. Veltman, Helenius J. Schelhaas, Hans Scheffer, Brunhilde Wirth

Am J Hum Genet. 2013 Jun 6; 92(6): 946–954. doi: 10.1016/j.ajhg.2013.04.011

PMCID:: PMC3675237

Abstract Article PDF–1.4M

Select item 335958215.

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

M.B. Harms, K.M. Ori-McKenney, M. Scoto, E.P. Tuck, S. Bell, D. Ma, S. Masi, P. Allred, M. Al-Lozi, M.M. Reilly, L.J. Miller, A. Jani-Acsadi, A. Pestronk, M.E. Shy, F. Muntoni, R.B. Vallee, R.H. Baloh

Neurology. 2012 May 29; 78(22): 1714–1720. doi: 10.1212/WNL.0b013e3182556c05