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Select item 113534991.

A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker–Warburg-like Features

Akzam Saidin, Anet Papazovska Cherepnalkovski, Zeeshan Shaukat, Todor Arsov, Rashid Hussain, Ben J. Roberts, Marija Bucat, Klara Cogelja, Michael G. Ricos, Leanne M. Dibbens

Genes (Basel) 2024 Aug; 15(8): 1031. Published online 2024 Aug 5. doi: 10.3390/genes15081031

PMCID:: PMC11353499

Abstract Article PDF–2.8M

Select item 108742972.

RETINAL MANIFESTATIONS OF WALKER–WARBURG SYNDROME IN TWO SIBLINGS WITH RXYLT1 MUTATIONS

Eric E. Jung, Aaron Nagiel

Retin Cases Brief Rep. Author manuscript; available in PMC 2025 Jan 1.

Published in final edited form as: Retin Cases Brief Rep. 2024 Jan 1; 18(1): 6–10. doi: 10.1097/ICB.0000000000001322

PMCID:: PMC10874297

Abstract Article PDF–589K

Select item 94298333.

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair

Sonja Strang-Karlsson, Katherine Johnson, Ana Töpf, Liwen Xu, Monkol Lek, Daniel G. MacArthur, Olivera Casar-Borota, Maria Williams, Volker Straub, Carina Wallgren-Pettersson

Neuromuscul Disord. Author manuscript; available in PMC 2022 Aug 31.

Published in final edited form as: Neuromuscul Disord. 2018 Jul; 28(7): 614–618. Published online 2018 May 16. doi: 10.1016/j.nmd.2018.04.012

PMCID:: PMC9429833

Abstract Article PDF–1.1M

Select item 92868404.

Prenatal diagnosis of Walker–Warburg syndrome due to compound mutations in the B3GALNT2 gene

Peng Wang, Pengzhen Jin, Linyan Zhu, Min Chen, Yeqing Qian, Wenshan Zeng, Miaomiao Wang, Yuqing Xu, Yanfei Xu, Minyue Dong

J Gene Med. 2022 May; 24(5): e3417. Published online 2022 Apr 6. doi: 10.1002/jgm.3417

PMCID:: PMC9286840

Abstract Article PDF–10M

Select item 90248835.

Expanding the Phenotype of B3GALNT2-Related Disorders

Erika D’haenens, Sarah Vergult, Björn Menten, Annelies Dheedene, R. Frank Kooy, Bert Callewaert

Genes (Basel) 2022 Apr; 13(4): 694. Published online 2022 Apr 14. doi: 10.3390/genes13040694

PMCID:: PMC9024883

Abstract Article PDF–2.2M

Select item 89859136.

Syndromic Hydrocephalus

Kaamya Varagur, Sai Anusha Sanka, Jennifer M. Strahle

Neurosurg Clin N Am. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Neurosurg Clin N Am. 2022 Jan; 33(1): 67–79. doi: 10.1016/j.nec.2021.09.006

PMCID:: PMC8985913

Article PDF–818K

Select item 86884557.

Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy

Terumi Murakami, Takatoshi Sato, Michiru Adachi, Kumiko Ishiguro, Minobu Shichiji, Hisateru Tachimori, Satoru Nagata, Keiko Ishigaki

Sci Rep. 2021; 11: 24229. Published online 2021 Dec 20. doi: 10.1038/s41598-021-03781-z

Correction in:: Sci Rep. 2022; 12: 13263.

PMCID:: PMC8688455

Abstract Article PDF–1.1M

Select item 85810538.

Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies

Carolina Ortiz-Cordero, Claudia Bincoletto, Neha R. Dhoke, Sridhar Selvaraj, Alessandro Magli, Haowen Zhou, Do-Hyung Kim, Anne G. Bang, Rita C.R. Perlingeiro

Stem Cell Reports. 2021 Nov 9; 16(11): 2752–2767. Published online 2021 Oct 14. doi: 10.1016/j.stemcr.2021.09.009

PMCID:: PMC8581053

Abstract Article PDF–6.7M

Select item 83278549.

A universal gene correction approach for FKRP-associated dystroglycanopathies to enable autologous cell therapy

Neha R. Dhoke, Hyunkee Kim, Sridhar Selvaraj, Karim Azzag, Haowen Zhou, Nelio A.J. Oliveira, Sudheer Tungtur, Carolina Ortiz-Cordero, James Kiley, Qi Long Lu, Anne G. Bang, Rita C.R. Perlingeiro

Cell Rep. Author manuscript; available in PMC 2021 Aug 2.

Published in final edited form as: Cell Rep. 2021 Jul 13; 36(2): 109360. doi: 10.1016/j.celrep.2021.109360

PMCID:: PMC8327854

Abstract Article PDF–1.8M

Select item 794041210.

Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases

Jee-Soo Lee, Kyung Bok Lee, Han Song, ChoongHyun Sun, Man Jin Kim, Sung Im Cho, Young Kyung Lee, Sung Sup Park, Moon-Woo Seong

Eur J Hum Genet. 2021 Mar; 29(3): 463–470. Published online 2020 Nov 24. doi: 10.1038/s41431-020-00759-9

PMCID:: PMC7940412

Abstract Article PDF–773K

Select item 792494011.

NAD+ enhances ribitol and ribose rescue of α-dystroglycan functional glycosylation in human FKRP-mutant myotubes

Carolina Ortiz-Cordero, Alessandro Magli, Neha R Dhoke, Taylor Kuebler, Sridhar Selvaraj, Nelio AJ Oliveira, Haowen Zhou, Yuk Y Sham, Anne G Bang, Rita CR Perlingeiro

eLife. 2021; 10: e65443. Published online 2021 Jan 29. doi: 10.7554/eLife.65443

PMCID:: PMC7924940

Abstract Article PDF–3.3M

Select item 781478712.

Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan–Related Muscular Disorders

G. Talenti, C. Robson, M.S. Severino, C.A. Alves, D. Chitayat, H. Dahmoush, L. Smith, F. Muntoni, S.I. Blaser, F. D’Arco

AJNR Am J Neuroradiol. 2021 Jan; 42(1): 167–172. doi: 10.3174/ajnr.A6858

PMCID:: PMC7814787

Abstract Article PDF–834K

Select item 754037413.

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

Nicole Corsten‐Janssen, Katelijne Bouman, Janouk C. D. Diphoorn, Arjen J. Scheper, Rianne Kinds, Julia el Mecky, Hanna Breet, Joke B. G. M. Verheij, Ron Suijkerbuijk, Leonie K. Duin, Gwendolyn T. R. Manten, Irene M. van Langen, Rolf H. Sijmons, Birgit Sikkema‐Raddatz, Helga Westers, Cleo C. van Diemen

Prenat Diagn. 2020 Sep; 40(10): 1300–1309. Published online 2020 Jul 20. doi: 10.1002/pd.5781

PMCID:: PMC7540374

Abstract Article PDF–1.4M

Select item 748824814.

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

Luisa Paul, Katrin Rupprich, Adela Della Marina, Anja Stein, Magdeldin Elgizouli, Frank J. Kaiser, Bernd Schweiger, Angela Köninger, Antonella Iannaccone, Ute Hehr, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt, Alma Kuechler

Orphanet J Rare Dis. 2020; 15: 242. Published online 2020 Sep 9. doi: 10.1186/s13023-020-01454-0

PMCID:: PMC7488248

Abstract Article PDF–1.8M

Select item 732815115.

Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies

Alec R. Nickolls, Michelle M. Lee, Kristen Zukosky, Barbara S. Mallon, Carsten G. Bönnemann

Dis Model Mech. 2020 Jun 1; 13(6): dmm042986. Published online 2020 Jun 26. doi: 10.1242/dmm.042986

PMCID:: PMC7328151

Abstract Article

Select item 727448616.

Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy

Shigefumi Morioka, Hirofumi Sakaguchi, Hiroaki Mohri, Mariko Taniguchi-Ikeda, Motoi Kanagawa, Toshiaki Suzuki, Yuko Miyagoe-Suzuki, Tatsushi Toda, Naoaki Saito, Takehiko Ueyama

PLoS Genet. 2020 May; 16(5): e1008826. Published online 2020 May 26. doi: 10.1371/journal.pgen.1008826

PMCID:: PMC7274486

Abstract Article PDF–4.3M

Select item 726176117.

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

Lindsay B. Murphy, Olivia Schreiber‐Katz, Karen Rafferty, Agata Robertson, Ana Topf, Tracey A. Willis, Marcel Heidemann, Simone Thiele, Laurence Bindoff, Jean‐Pierre Laurent, Hanns Lochmüller, Katherine Mathews, Claudia Mitchell, John Herbert Stevenson, John Vissing, Lacey Woods, Maggie C. Walter, Volker Straub

Ann Clin Transl Neurol. 2020 May; 7(5): 757–766. Published online 2020 Apr 28. doi: 10.1002/acn3.51042

PMCID:: PMC7261761

Abstract Article PDF–586K

Select item 700108018.

biAb Mediated Restoration of the Linkage between Dystroglycan and Laminin-211 as a Therapeutic Approach for α-Dystroglycanopathies

Nathan Gumlaw, Leila M. Sevigny, Hongmei Zhao, Zhengyu Luo, Dinesh S. Bangari, Elizabeth Masterjohn, Yangde Chen, Barbara McDonald, Maureen Magnay, Tara Travaline, Takako Yoshida-Moriguchi, Wei Fan, David Reczek, James E. Stefano, Huawei Qiu, Christian Beil, Christian Lange, Ercole Rao, Michael Lukason, Elizabeth Barry, William H. Brondyk, Yunxiang Zhu, Seng H. Cheng

Mol Ther. 2020 Feb 5; 28(2): 664–676. Published online 2019 Dec 6. doi: 10.1016/j.ymthe.2019.11.023

PMCID:: PMC7001080

Abstract Article PDF–1.5M

Select item 682940919.

Type IV Collagen Is Essential for Proper Function of Integrin-Mediated Adhesion in Drosophila Muscle Fibers

András A. Kiss, Nikoletta Somlyai-Popovics, Márton Kiss, Zsolt Boldogkői, Katalin Csiszár, Mátyás Mink

Int J Mol Sci. 2019 Oct; 20(20): 5124. Published online 2019 Oct 16. doi: 10.3390/ijms20205124

PMCID:: PMC6829409

Abstract Article PDF–5.1M

Select item 669896820.

De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome

Linda M. Reis, Elena A. Sorokina, Samuel Thompson, Sanaa Muheisen, Milen Velinov, Carlos Zamora, Arthur S. Aylsworth, Elena V. Semina

Am J Hum Genet. 2019 Aug 1; 105(2): 425–433. Published online 2019 Jul 18. doi: 10.1016/j.ajhg.2019.06.015

PMCID:: PMC6698968

Abstract Article PDF–2.2M

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