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1.
Serum neurofilament light chain in distinct phenotypes of amyotrophic lateral sclerosis: A longitudinal, multicenter study.
Eur J Neurol
; : e16379, 2024 Jun 10.
Article
in English
| MEDLINE | ID: mdl-38859579
2.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Am J Hum Genet
; 107(2): 364-373, 2020 08 06.
Article
in English
| MEDLINE | ID: mdl-32707086
3.
Performance of serum neurofilament light chain in a wide spectrum of clinical courses of amyotrophic lateral sclerosis-a cross-sectional multicenter study.
Eur J Neurol
; 30(6): 1600-1610, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36899448
4.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 24(10): 2079-2090, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35986737
5.
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.
Mov Disord
; 37(10): 2147-2153, 2022 10.
Article
in English
| MEDLINE | ID: mdl-36047608
6.
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Mov Disord
; 37(8): 1707-1718, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35699229
7.
MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion.
Hum Mol Genet
; 27(8): 1434-1446, 2018 04 15.
Article
in English
| MEDLINE | ID: mdl-29462312
8.
[CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia]. / CANVAS: Fallbericht einer neuen Repeat-Erkrankung mit spät beginnender Ataxie.
Nervenarzt
; 91(6): 537-540, 2020 Jun.
Article
in German
| MEDLINE | ID: mdl-32367146
9.
Clinical Relevance of Genetic Variants in Juvenile Stroke Patients: A Plea for a Precise Classification.
Ann Neurol
; 94(3): 608, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37466254
10.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 25(10): 100961, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37650884
11.
Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis.
Rheumatology (Oxford)
; 61(5): e117-e119, 2022 05 05.
Article
in English
| MEDLINE | ID: mdl-34894213
12.
Reply to: "Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected".
Mov Disord
; 37(11): 2324-2325, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36373939
13.
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.
Brain
; 144(3): e30, 2021 04 12.
Article
in English
| MEDLINE | ID: mdl-33454747
14.
Reduced tear fluid production in neurological diseases: a cohort study in 708 patients.
J Neurol
; 271(4): 1824-1836, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38063868
15.
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target.
Nat Commun
; 15(1): 4893, 2024 Jun 07.
Article
in English
| MEDLINE | ID: mdl-38849340
16.
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study.
Lancet Reg Health Eur
; 39: 100862, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38361750
17.
TDP-43 Proteinopathy Specific Biomarker Development.
Cells
; 12(4)2023 02 12.
Article
in English
| MEDLINE | ID: mdl-36831264
18.
Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.
J Neurol
; 270(3): 1501-1511, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36411388
19.
Long-Lasting Impact of the COVID-19 Pandemic on Patients with Parkinson's Disease and Their Relatives.
Mov Disord Clin Pract
; 10(5): 819-823, 2023 May.
Article
in English
| MEDLINE | ID: mdl-37205245
20.
Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers-A Prospective, Cross-Sectional, Multi-Center Analysis.
Brain Sci
; 13(1)2023 Jan 07.
Article
in English
| MEDLINE | ID: mdl-36672091