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Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families
Ullah A, Zubaida B, Cheema HA, et al.
Journal of pediatric endocrinology & metabolism : JPEM, 2020
The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families
Dardas Z, Swedan S, Al-Sheikh Qassem A, et al.
European journal of medical genetics, 2020
Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures
Landires I, Nunez-Samudio V, Fernandez J, et al.
Genes, 2020, 11, 2
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23
Al-Futaisi A, Ahmad F, Al-Kasbi G, et al.
Clinical genetics, 2019
Identification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathy
Greenbaum L, Barel O, Nikitin V, et al.
Muscle & Nerve, 2019
Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected
De Ridder W, Azmi A, Clemen CS, et al.
Neurology, 2019
Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect
Mojbafan M, Tina S, Zafarghandi Motlagh F, et al.
Molecular genetics & genomic medicine, 2019
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking
Wang H, Kacar Bayram A, Sprute R, et al.
Frontiers in neuroscience, 2019, p 974
Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders
von der Hagen M, Becker LL, Wienker TF, et al.
Neuropediatrics, 2019
Recessive distal motor neuropathy with pyramidal signs in an Omani kindred: underlying novel mutation in the SIGMAR1 gene
Nandhagopal R, Meftah D, Al-Kalbani S, et al.
European journal of neurology, 2018, 25, 2, p 395
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies
Bartsakoulia M, Pyle A, Troncosco D, et al.
Human molecular genetics, 2018, 27, 7, p 1186
Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy
Stojkovic T, Chanut A, Laforêt P, et al.
Muscle & Nerve, 2018, 57, 5, p E122
WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon
Masingue M, Perrot J, Carlier RY, et al.
Neurogenetics, 2018, 19, 2, p 67
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, 2017
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission
Maselli RA, Arredondo J, Vázquez J, et al.
American Journal of Medical Genetics Part A, 2017, 173, 8, p 2240
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness
Knierim E, Gill E, Seifert F, et al.
Human genetics, 2017, 136, 7, p 903
Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula
Hossain MA, Obaid A, Rifai M, et al.
Human genome variation, 2017, 4
Child Neurology: LAMA2 muscular dystrophy without contractures
Dean M, Rashid S, Kupsky W, et al.
Neurology, 2017, 88, 21
A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement
Kondo D, Shinoda K, Yamashita KI, et al.
Neuromuscular disorders : NMD, 2017, 27, 10, p 959
Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy
Ullah MI, Ahmad A, Zarkovic M, et al.
Saudi Medical Journal, 2017, 38, 12, p 1190
Myasthénie juvénile oculaire en Afrique Subsaharienne : cas de deux soeurs germaines issues d'un mariage consanguin au Togo : [Juvenile myasthenia gravis in sub-Saharan Africa: a case study of two consanguine sisters born from consanguinity in Togo]
Maneh N, Apetse K, Diatewa BM, et al.
The Pan African medical journal, 2017, 28
Dystrophie musculaire des ceintures avec déficit en calpaïne 3 : un mode de transmission inédit.
Urtizberea JA
2016
