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Genetic Variability in Oxidative Stress, Inflammatory, and Neurodevelopmental Pathways: Impact on the Susceptibility and Course of Spinal Muscular Atrophy

Cellular and molecular neurobiology, 2024-10, Vol.44 (1), p.71, Article 71

2024

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Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre

PloS one, 2021-06, Vol.16 (6), p.e0252953-e0252953

2021

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Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Human genetics, 2021-04, Vol.140 (4), p.579-592

2021

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

Radiology and oncology, 2022-08, Vol.56 (3), p.319-325

2022

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Reference values for jitter recorded by concentric needle electrodes in healthy controls: A multicenter study

Muscle & nerve, 2016-03, Vol.53 (3), p.351-362

2016

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Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

American journal of human genetics, 2011-01, Vol.88 (1), p.99-105

2011

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

Frontiers in molecular neuroscience, 2018-04, Vol.11, p.106-106

2018

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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Brain (London, England : 1878), 2020-02, Vol.143 (2), p.480-490

2020

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Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

Neurobiology of aging, 2015-03, Vol.36 (3), p.1601.e17-1601.e20

2015

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Template-operated MUP analysis is not accurate in the diagnosis of myopathic or neuropathic changes in the diaphragm

Neurophysiologie clinique, 2017-12, Vol.47 (5-6), p.405-412

2017

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Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies

Journal of clinical pathology, 2019-07, Vol.72 (7), p.468-472

2019

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The endocrine manifestations of adults with spinal muscular atrophy

Muscle & nerve, 2024-12, Vol.70 (6), p.1230-1239

2024

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

Zdravniški vestnik (Ljubljana, Slovenia : 1992), 2015-09, Vol.84 (7-8)

2015

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

Scientific reports, 2018-04, Vol.8 (1), p.5609-15, Article 5609

2018

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

Clinical neurophysiology, 2023-06, Vol.150, p.e106-e106

2023

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Shaky hands are a part of motor neuron disease phenotype: clinical and electrophysiological study of 77 patients

Journal of neurology, 2022-08, Vol.269 (8), p.4498-4509

2022

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

Brain (London, England : 1878), 2020-09, Vol.143 (9), p.2696-2708

2020

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

Human mutation, 2022-10, Vol.43 (10), p.1347-1353

2022

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P80-F The spectrum of involuntary movements in patients with motor neuron disease – A cross-sectional study

Clinical neurophysiology, 2019-07, Vol.130 (7), p.e90-e90

2019

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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Brain (London, England : 1878), 2024-05, Vol.147 (5), p.1887-1898

2024

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Mišica pri nevroloških boleznih

Mišica v zdravju in bolezni, 2023, Vol.62 (Suppl 3)

Leonardis, Lea

2023

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

Genes, 2023-11, Vol.14 (12), p.2166

2023

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Life-threatening myositis after one dose of nivolumab in a patient with nonmetastatic completely resected cutaneous melanoma

Acta neurologica Belgica, 2022-12, Vol.122 (6), p.1637-1639

2022

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Single fiber EMG as a prognostic tool in myasthenia gravis

Muscle & nerve, 2016-12, Vol.54 (6), p.1034-1040

2016

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IMG-01 The spectrum of involuntary movements in patients with motor neuron disease: a cross-sectional study

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2019-11, Vol.20 (sup1), p.246-261

2019

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Genetic Variability in Oxidative Stress, Inflammatory, and Neurodevelopmental Pathways: Impact on the Susceptibility and Course of Spinal Muscular Atrophy

Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

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

Reference values for jitter recorded by concentric needle electrodes in healthy controls: A multicenter study

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

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

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

Template-operated MUP analysis is not accurate in the diagnosis of myopathic or neuropathic changes in the diaphragm

Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies

The endocrine manifestations of adults with spinal muscular atrophy

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

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

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

Shaky hands are a part of motor neuron disease phenotype: clinical and electrophysiological study of 77 patients

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

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

P80-F The spectrum of involuntary movements in patients with motor neuron disease – A cross-sectional study

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Mišica pri nevroloških boleznih

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

Life-threatening myositis after one dose of nivolumab in a patient with nonmetastatic completely resected cutaneous melanoma

Single fiber EMG as a prognostic tool in myasthenia gravis

IMG-01 The spectrum of involuntary movements in patients with motor neuron disease: a cross-sectional study

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