Rapidly Progressing and Early-Onset Forms of Amyotrophic Lateral Sclerosis Caused by a Novel <i>SOD1</i> Variant in a Lithuanian Family

The novel <i>SOD1</i> variant p.Val149Ala in this Lithuanian family causes ALS of variable onset and course, including a case of early-onset ALS and one case of rapidly progressing ALS, necessitating recognition by the scientific community and development of tailored therapeutic approaches.

Authors

Aušra Klimašauskienė (ORCID: https://orcid.org/0009-0009-8511-3584)
Birutė Burnytė (ORCID: https://orcid.org/0000-0002-5845-1045)
Domantas Valančius (ORCID: https://orcid.org/0000-0002-2471-4142)
Aušra Morkūnienė (ORCID: https://orcid.org/0009-0006-1789-5973)
Raminta Masaitienė

Institutions

Vilnius University (LT)

Publication Details

Journal: Neurology Genetics
Published: 2024-11-27
DOI: https://doi.org/10.1212/nxg.0000000000200217
Citations: 1
Primary Topic: Amyotrophic Lateral Sclerosis Research
Type: article
Field-Weighted Citation Impact: 0.37

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article

Rapidly Progressing and Early-Onset Forms of Amyotrophic Lateral Sclerosis Caused by a Novel SOD1 Variant in a Lithuanian Family

Aušra Klimašauskienė, Birutė Burnytė, Domantas Valančius, Aušra Morkūnienė et al.

Nov 27, 2024

1 citations

Neurology Genetics

Amyotrophic Lateral Sclerosis Research

0.37

article

Rapidly Progressing and Early-Onset Forms of Amyotrophic Lateral Sclerosis Caused by a Novel SOD1 Variant in a Lithuanian Family

Aušra Klimašauskienė, Birutė Burnytė, Domantas Valančius, Aušra Morkūnienė, Raminta Masaitienė

November 27, 2024article en

1 citations

Abstract

The novel <i>SOD1</i> variant p.Val149Ala in this Lithuanian family causes ALS of variable onset and course, including a case of early-onset ALS and one case of rapidly progressing ALS, necessitating recognition by the scientific community and development of tailored therapeutic approaches.

Neurology GeneticsVol. 10(6)

Vilnius University (LT)

Zero hunger

Openalex Percentile: Top 33%

Amyotrophic Lateral Sclerosis Research

0.37

DOI Open Access PDF OpenAlex

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