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UnknownMulti-Center National Study of Genotype-Phenotype Correlation and Clinical Characteristics in Children and Young Adults with Friedreich's Ataxia from Serbia.
Not available
S-EPMC12650222 | biostudies-literature
UnknownIntellectual ability in the duchenne muscular dystrophy and dystrophin gene mutation location.
Not available
S-EPMC4413439 | biostudies-literature
UnknownBiallelic <i>ADPRHL2</i> mutations in complex neuropathy affect ADP ribosylation and DNA damage response.
Not available
S-EPMC8424258 | biostudies-literature
UnknownPhosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma as a Nusinersen treatment response marker in childhood-onset SMA individuals from Serbia.
Not available
S-EPMC11097956 | biostudies-literature
UnknownLTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients.
Not available
S-EPMC9407083 | biostudies-literature
UnknownPhenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia.
Not available
S-EPMC6859413 | biostudies-literature
UnknownSphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.
Not available
S-EPMC5304460 | biostudies-literature
UnknownBiallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
Not available
S-EPMC12782158 | biostudies-literature
UnknownTargeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
Not available
S-EPMC2997370 | biostudies-literature
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