Research & Literature

Ectopic clustering of Cajal-Retzius and subplate cells is an initial pathological feature in Pomgnt2-knockout mice, a model of dystroglycanopathy.

Nakagawa N, Yagi H, Kato K, et al.

Scientific reports 2015; (5()):11163 doi:10.1038/srep11163.

ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome.

Trkova M, Krutilkova V, Smetanova D, et al.

European journal of medical genetics 2015; (58(8)):372-5.

Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome.

Mano N, Mitsutsuji T, Yoshikawa Y, et al.

Case reports in ophthalmology 2015; (6(2)):210-5 doi:10.1159/000435771.

Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern.

Lacalm A, Nadaud B, Massoud M, et al.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2016; (47(1)):117-22 doi:10.1002/uog.15735.

Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.

Yang H, Manya H, Kobayashi K, et al.

Journal of human genetics 2016; (61(8)):753-9 doi:10.1038/jhg.2016.42.

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.

Gerin I, Ury B, Breloy I, et al.

Nature communications 2016; (7()):11534 doi:10.1038/ncomms11534.

Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review.

Taniguchi-Ikeda M, Morioka I, Iijima K, Toda T

Molecular aspects of medicine 2016; (51()):115-24.

Congenital muscular dystrophy: from muscle to brain.

Falsaperla R, Praticò AD, Ruggieri M, et al.

Italian journal of pediatrics 2016; (42(1)):78 doi:10.1186/s13052-016-0289-9.

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Jerber J, Zaki MS, Al-Aama JY, et al.

American journal of human genetics 2016; (99(5)):1181-1189 doi:10.1016/j.ajhg.2016.09.007.

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.

Karaoglu P, Quizon N, Pergande M, et al.

Brain & development 2017; (39(4)):361-364 doi:10.1016/j.braindev.2016.11.002.

Postnatal Gene Therapy Improves Spatial Learning Despite the Presence of Neuronal Ectopia in a Model of Neuronal Migration Disorder.

Hu H, Liu Y, Bampoe K, et al.

Genes 2016; (7(12)).

Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy.

Booler HS, Pagalday-Vergara V, Williams JL, et al.

Neuropathology and applied neurobiology 2017; (43(4)):330-345 doi:10.1111/nan.12376.

Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.

Brun BN, Mockler SR, Laubscher KM, et al.

Neurology 2017; (88(7)):623-629 doi:10.1212/WNL.0000000000003609.

Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation.

Ardicli D, Gocmen R, Talim B, et al.

Neuromuscular disorders : NMD 2017; (27(3)):239-242 doi:10.1016/j.nmd.2016.12.008.

A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.

Tanaka T, Harris CJ, Barnett SS, Litofsky NS

Case reports in neurological medicine 2016; (2016()):7627289 doi:10.1155/2016/7627289.

Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein.

Bouchet-Séraphin C, Vuillaumier-Barrot S, Seta N

Journal of neuromuscular diseases 2015; (2(1)):27-38.

Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene.

Vannoy CH, Xiao W, Lu P, et al.

Molecular therapy. Methods & clinical development 2017; (5()):31-42 doi:10.1016/j.omtm.2017.02.002.

Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy.

Kanagawa M, Toda T

Journal of neuromuscular diseases 2017; (4(4)):259-267 doi:10.3233/JND-170255.

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.

Leibovitz Z, Mandel H, Falik-Zaccai TC, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018; (22(3)):525-531 doi:10.1016/j.ejpn.2017.12.012.

Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage.

Sudo A, Kanagawa M, Kondo M, et al.

Human molecular genetics 2018; (27(7)):1174-1185 doi:10.1093/hmg/ddy032.

Targeted deletion of RIC8A in mouse neural precursor cells interferes with the development of the brain, eyes, and muscles.

Kask K, Tikker L, Ruisu K, et al.

Developmental neurobiology 2018; (78(4)):374-390 doi:10.1002/dneu.22578.

Bilateral total retinal detachment at birth: a case report of Walker-Warburg syndrome.

Hakim N, Soare C, Hakim J

International medical case reports journal 2018; (11()):1-4 doi:10.2147/IMCRJ.S154223.

Amplicon-Based Targeted Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue.

Strengman E, Barendrecht-Smouter FAS, de Voijs C, et al.

Methods in molecular biology (Clifton, N.J.) 2019; (1908()):1-17 doi:10.1007/978-1-4939-9004-7_1.

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.

Geis T, Rödl T, Topaloğlu H, et al.

Orphanet journal of rare diseases 2019; (14(1)):179 doi:10.1186/s13023-019-1119-0.

NAD+ improves neuromuscular development in a zebrafish model of FKRP-associated dystroglycanopathy.

Bailey EC, Alrowaished SS, Kilroy EA, et al.

Skeletal muscle 2019; (9(1)):21 doi:10.1186/s13395-019-0206-1.

A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan.

Kim J, Lana B, Torelli S, et al.

EMBO reports 2019; (20(11)):e47967 doi:10.15252/embr.201947967.

Further evidence for POMK as candidate gene for WWS with meningoencephalocele.

Paul L, Rupprich K, Della Marina A, et al.

Orphanet journal of rare diseases 2020; (15(1)):242 doi:10.1186/s13023-020-01454-0.

Homozygous Fukutin Missense Mutation in Two Mexican Siblings with Dilated Cardiomyopathy.

Villarreal-mMolina MT, Rosas-Madrigal S, López-Mora E, et al.

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion 2020; (73(3)):132-137 doi:10.24875/RIC.20000277.

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

Talenti G, Robson C, Severino MS, et al.

AJNR. American journal of neuroradiology 2021; (42(1)):167-172 doi:10.3174/ajnr.A6858.

Electrographic pattern recognition: A simple tool to predict clinical outcome in children with lissencephaly.

Jauhari P, Farmania R, Chakrabarty B, et al.

Seizure 2020; (83()):175-180 doi:10.1016/j.seizure.2020.10.020.

Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients.

Chen XY, Song DY, Fan YB, et al.

Chinese medical journal 2020; (134(12)):1483-1485 doi:10.1097/CM9.0000000000001283.

Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations.

Bayram N, Bayram AK, Per H, et al.

European journal of ophthalmology 2022; (32(5)):NP71-NP76 doi:10.1177/11206721211016306.

POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.

Gan S, Yang H, Xiao T, et al.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2021; (46(8)):915-919 doi:10.11817/j.issn.1672-7347.2021.200067.

Restoration of the defect in radial glial fiber migration and cortical plate organization in a brain organoid model of Fukuyama muscular dystrophy.

Taniguchi-Ikeda M, Koyanagi-Aoi M, Maruyama T, et al.

iScience 2021; (24(10)):103140 doi:10.1016/j.isci.2021.103140.

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.

Cheng HL, Shao YR, Dong Y, et al.

Translational neurodegeneration 2021; (10(1)):40 doi:10.1186/s40035-021-00264-z.

Qualitative exploration of feasibility and acceptability of the modified Atkins diet therapy for children with drug resistant epilepsy in Kenya.

Samia P, Naanyu V, Cross JH, et al.

Epilepsy & behavior : E&B 2021; (125()):108362 doi:10.1016/j.yebeh.2021.108362.

CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model.

Tokuoka H, Imae R, Nakashima H, et al.

Nature communications 2022; (13(1)):1847 doi:10.1038/s41467-022-29473-4.

Seizures and EEG characteristics in a cohort of pediatric patients with dystroglycanopathies.

Yang H, Song D, Liu Y, et al.

Seizure 2022; (101()):39-47 doi:10.1016/j.seizure.2022.07.008.

Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations.

Zago S, Silvestri E, Arcangeli T, et al.

Fetal and pediatric pathology 2023; (42(2)):334-341 doi:10.1080/15513815.2022.2116620.

High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.

Çavdarlı B, Köken ÖY, Satılmış SBA, et al.

Annals of human genetics 2023; (87(3)):104-114 doi:10.1111/ahg.12492.

Inhibitory machinery for the functional dystroglycan glycosylation.

Kondo Y, Okajima T

Journal of biochemistry 2023; (173(5)):333-335 doi:10.1093/jb/mvad003.

GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.

Chompoopong P, Milone M

Genes 2023; (14(2)) doi:10.3390/genes14020372.

Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.

Sedlackova L, Sterbova K, Vlckova M, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):17-29 doi:10.1016/j.ejpn.2023.10.006.

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Rosina E, Pezzani L, Apuril E, et al.

Molecular genetics & genomic medicine 2024; (12(1)):e2316 doi:10.1002/mgg3.2316.

Inhibitory CCK+ basket synapse defects in mouse models of dystroglycanopathy.

Jahncke JN, Miller DS, Krush M, et al.

eLife 2024; (12()).

Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.

Martínez Olorón P, Alegría I, Cesar S, et al.

International journal of molecular sciences 2024; (25(11)) doi:10.3390/ijms25115836.

Dual FKRP/FST gene therapy normalizes ambulation, increases strength, decreases pathology, and amplifies gene expression in LGMDR9 mice.

Lam P, Zygmunt DA, Ashbrook A, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2024; (32(8)):2604-2623 doi:10.1016/j.ymthe.2024.06.028.

Advancements in Dravet Syndrome Therapeutics: A Comprehensive Look at Present and Future Treatment Horizons: A Focused Review.

Mahesan A, Kamila G, Gulati S

Annals of Indian Academy of Neurology 2024; (27(4)):352-357 doi:10.4103/aian.aian_49_24.

Cobblestone lissencephaly (Type II), clinical, and neuroimaging: A case report and literature review.

Sharma PK, Jerosha S, Subramonian SG, et al.

Radiology case reports 2024; (19(11)):4794-4803 doi:10.1016/j.radcr.2024.07.043.

Walker-Warburg syndrome: A case report of congenital muscular dystrophy with hydrocephalus.

Aref F, Shaaban A, Ahmed A, et al.

Radiology case reports 2024; (19(11)):5063-5065 doi:10.1016/j.radcr.2024.07.149.

Malformations of Core M3 on α-Dystroglycan Are the Leading Cause of Dystroglycanopathies.

Sharaf-Eldin W

Journal of molecular neuroscience : MN 2025; (75(1)):28 doi:10.1007/s12031-025-02320-z.

A child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in the CRPPA gene: a case report and literature review.

Zhang S, Wu M, Li X, et al.

Translational pediatrics 2025; (14(7)):1691-1699 doi:10.21037/tp-2025-6.

283rd ENMC international workshop: Establishing expert care recommendations for LAMA2-RD: A prototype for the development of congenital muscular dystrophy subtype-specific care guidelines. Hoofddorp, The Netherlands, January 17th-19th 2025.

Zambon AA, Klein A, Sarkozy A, et al.

Neuromuscular disorders : NMD 2025; (55()):106220 doi:10.1016/j.nmd.2025.106220.

Cobblestone lissencephaly in the setting of congenital cytomegalovirus infection: A case report and review of the literature.

Das S, Lachance E, Mandziuk J

Clinical neuropathology 2026; (45(1)):26-31 doi:10.5414/NP301711.