Publications by authors named "Ieva Micule"

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Mitochondrial cardiomyopathy with skeletal muscle myopathy caused by m.3260A > G mutation in MT-TL1 gene: a case report.
Anda Kadiša, Ritvars Vereskuns, Mihails Tarasovs, Ieva Mičule, Inna Inashkina

J Med Case Rep· November 2025

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Genetic Analysis of and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma.
Eva Elksne, Baiba Lace, Janis Stavusis, Anastasija Tvoronovica, Pawel Zayakin, Ieva Micule

Biomedicines· May 2025

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Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.
Marija Rozevska, Katrina Daila Neiburga-Vigante, Inga Nartisa, Zane Lucane, Lota Ozola, Ieva Micule

Front Immunol· April 2025

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The phenotypic spectrum of deficiency.
Baiba Lace, Eissa Faqeih, Namik Kaya, Zita Krumina, Johannes A Mayr, Ieva Micule

JIMD Rep· September 2024

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Altered Splicing of in a Multigenerational Family from Latvia Affected by Danon Disease.
Janis Stavusis, Ieva Micule, Ieva Grinfelde, Anna Zdanovica, Janis Pudulis

Medicina (Kaunas)· January 2024

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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Ieva Micule

Am J Med Genet A· August 2023

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Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.
Inga Nartisa, Rasa Kirsteina, Katrina Daila Neiburga, Sanita Zigure, Lota Ozola, Ieva Micule

Pediatr Allergy Immunol· April 2023

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The most common European HINT1 neuropathy variant phenotype and its case studies.
Marija Rozevska, Dmitrijs Rots, Linda Gailite, Ronalds Linde, Stanislavs Mironovs, Ieva Micule

Front Neurol· February 2023

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CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Magdalena Mroczek, Inna Inashkina, Janis Stavusis, Pawel Zayakin, Andrey Khrunin, Ieva Micule

Hum Mutat· October 2022

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Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.
Baiba Lace, Ieva Micule, Viktorija Kenina, Signe Setlere, Jurgis Strautmanis

Neurol Genet· June 2022

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Kohlschütter-Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants.
Lelde Liepina, Marija Luize Kalnina, Ieva Micule, Linda Gailite, Dmitrijs Rots

Am J Med Genet A· April 2022

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Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
Sen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, Yuzhi Zuo, Xiaoxin Li, Ieva Micule

NPJ Genom Med· February 2022

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Implication of Genetic Testing and Pregnancy Outcome in a Woman with Unbalanced Translocation t(1;6).
Marija Jurčenko, Madara Auzenbaha, Ieva Mičule, Ieva Grīnfelde, Aigars Dzalbs

Am J Case Rep· February 2022

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Case Report: Two Families With Related Neurodegeneration.
Ieva Micule, Baiba Lace, Nathan T Wright, Nicolas Chrestian, Jurgis Strautmanis

Front Genet· February 2022

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New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study.
Linda Gailite, Olga Sterna, Maija Konika, Aleksejs Isakovs, Jekaterina Isakova, Ieva Micule

Int J Neonatal Screen· February 2022

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Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia.
Arta Katkevica, Madara Kreile, Ieva Grinfelde, Gita Taurina, Ieva Micule

Case Rep Med· November 2021

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Plasma neurofilament light chain as a potential biomarker in Charcot-Marie-Tooth disease.
Elina Millere, Dmitrijs Rots, Joel Simrén, Nicholas J Ashton, Einars Kupats, Ieva Micule

Eur J Neurol· March 2021

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Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity.
Janis Stavusis, Ieva Micule, Nathan T Wright, Volker Straub, Ana Topf

Neuromuscul Disord· June 2020

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Genetic variation spectrum in gene identified in Latvian patients with Wilson disease.
Agnese Zarina, Ieva Tolmane, Madara Kreile, Aleksandrs Chernushenko, Gunta Cernevska, Ieva Micule

Mol Genet Genomic Med· July 2017

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Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inna Inashkina, Eriks Jankevics, Janis Stavusis, Inta Vasiljeva, Kristine Viksne, Ieva Micule

BMC Musculoskelet Disord· May 2016

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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Frank J Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil-Rodríguez, Christophe Decroos, Ieva Micule

Hum Mol Genet· June 2014

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Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy.
Baiba Lace, Inna Inashkina, Ieva Micule, Inta Vasiljeva, Maruta Solvita Naudina

Case Rep Neurol Med· September 2013

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