Explanipedia

Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review Open

Karin Writzl, Maruša Škrjanec Pušenjak, Matevž Jus, Aleš Maver, Nuška Pečarič Meglič , et al. · 2025

Background: Pathogenic hemizygous variants in ATP7A most commonly cause Menkes disease or occipital horn syndrome (OHS), whereas ATP7A-related distal hereditary motor neuropathy (dHMN) is rarely reported. Here, we describe two adult brothe…

Teriparatide in sequental treatment of osteoporosis in a patient with spinal muscular atrophy: a case report and literature review Open

Matej Rakuša, Lea Leonardis, Blaž Koritnik, Andrej Janež, Mojca Jensterle · 2025

The endocrine manifestations of adults with spinal muscular atrophy Open

Matej Rakuša, Blaž Koritnik, Lea Leonardis, Katja Goričar, Tjasa Rudolf , et al. · 2024

Introduction/Aims Changes in body composition in patients with spinal muscular atrophy (SMA) can cause endocrine abnormalities that are insufficiently studied in adults. We aimed to assess the endocrine profile in a cohort of adults with S…

Pervasive Monitoring System for Cervical Dystonia: A Feasibility Study Using 9DOF Sensors Open

Tilen Brecelj, Anton Biasizzo, Tatjana Filipović, Andrej Laganis, Lea Leonardis , et al. · 2024

Cervical dystonia, a neurological disorder characterized by involuntary muscle contractions in the neck, presents significant challenges in symptom monitoring due to its fluctuating nature. Current clinical assessments are limited by time …

Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy Open

Anja Kovanda, Luca Lovrečić, Goražd Rudolf, Ivana Babič Božović, Helena Jaklič , et al. · 2023

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common hereditary muscular dystrophy, caused by the contraction of the D4Z4 repeats on the permissive 4qA haplotype on chromosome 4, resulting in the faulty expression of the …

Evaluation of optical genome mapping in clinical genetic testing of facioscapulohumeral muscular dystrophy Open

Anja Kovanda, Luca Lovrečić, Goražd Rudolf, Ivana Babič Božović, Helena Jaklič , et al. · 2023

Background Facioscapulohumeral muscular dystrophy (FSHD) is the third most common hereditary muscular dystrophy, caused by the contraction of the D4Z4 repeats on the permissive 4qA haplotype on chromosome 4, resulting in the faulty express…

N°108 – Mononeuropathies in critical covid-19 –implications for care in all critically ill patients Open

Mojca Kirbiš, Mateja Baruca, Leja Dolenc Grošelj, Katja Dremelj Šav, Tatjana Filipović , et al. · 2023

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey Open

Lynda El‐Hassar, Ahmed Ben Amara, Benoît Sanson, Oana Lăcătuș, Ahmed Amir Belhouchet , et al. · 2022

Background: Telemedicine (TM) contributes to bridge the gap between healthcare facilities and patients’ homes with neuromuscular disease (NMD) because of mobility issues. However, its deployment is limited due to difficulties evaluating su…

Cone-beam computed tomography guided nusinersen administrations in adult spinal muscular atrophy patients with challenging access: a single- center experience Open

Vladka Salapura, Žiga Snoj, Lea Leonardis, Blaž Koritnik, Viktorija Kostadinova · 2022

Background The challenging anatomic predispositions in adult patients with spinal muscular atrophy (SMA) preclude the conventional lumbar punctures. Consequently, an introduction of alternative method for intrathecal delivery of nusinersen…

<i>CAPN3</i> c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related Open

Magdalena Mroczek, Inna Inashkina, Janis Stavusis, Pawel Zayakin, Andrey Khrunin , et al. · 2022

The investigated intronic CAPN3 variant NM_000070.3:c.1746-20C>G occurs in the Central and Eastern Europe with a frequency of >1% and there are conflicting interpretations on its pathogenicity. We collected data on 14 patients carrying the…

Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study Open

Mihael Rogač, David Neubauer, Lea Leonardis, N Pecaric, Marija Meznarič , et al. · 2021

The goal of the study was to retrospectively evaluate a cohort of children and adults with mitochondrial diseases (MDs) in a single-center experience. Neurological clinical examination, brain magnetic resonance imaging (MRI) and spectrosco…

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy Open

Jorge Alonso‐Pérez, Lidia González‐Quereda, Luca Bello, Michela Guglieri, Volker Straub , et al. · 2020

Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several cli…

Theme 8 Clinical imaging and electrophysiology Open

Katarina Vogelnik, Ruben Perellón‐Alfonso, Blaž Koritnik, Polona Klavžar, Lea Leonardis , et al. · 2019

Background: We have commonly observed involuntary jerks and tremor in patients with motor neuron disease (MND), even though these features are not considered typical for the disease.Objectives: We conducted prospective clinic…

Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients Open

Katarina Vrabec, Emanuela Boštjančič, Blaž Koritnik, Lea Leonardis, Leja Dolenc Grošelj , et al. · 2018

Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS) through mutations in several genes. However, the cause of a majority of sporadic cases remains unknown. Recently, epigenetics, especially mi…

Differential expression of microRNAs and other small RNAs in muscle tissue of patients with ALS and healthy age-matched controls Open

Anja Kovanda, Lea Leonardis, Janez Zidar, Blaž Koritnik, Leja Dolenc‐Grošelj , et al. · 2018

Amyotrophic lateral sclerosis is a late-onset disorder primarily affecting motor neurons and leading to progressive and lethal skeletal muscle atrophy. Small RNAs, including microRNAs (miRNAs), can serve as important regulators of gene exp…

Percutaneous endoscopic gastrostomy in patients with ALS at the Ljubljana ALS Centre – a retrospective analysis Open

Peter Trdina, Blaž Koritnik, Lea Leonardis, Leja Dolenc Grošelj, Samo Plut , et al. · 2017

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis Open

Wouter van Rheenen, Aleksey Shatunov, Annelot M. Dekker, Russell L. McLaughlin, Frank P. Diekstra , et al. · 2016

Amyotrophic lateral sclerosis in Slovenia – analysis of patient population at the Ljubljana Institute of Clinical Neurophysiology Open

Mojca Kirbiš, Blaž Koritnik, Lea Leonardis, Leja Dolenc Grošelj, Polona Klinar , et al. · 2015

Backgorund: Data on epidemiology and disease characteristics of amyotrophic lateral sclerosis (ALS) are geographically limited and no systematically collected data exist for slovenian patients. We performed a retrospective descriptive stud…

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