Search details
1.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
EMBO J
; 39(23): e105364, 2020 12 01.
Article
in English
| MEDLINE | ID: mdl-33128823
2.
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Brain
; 146(10): 4200-4216, 2023 10 03.
Article
in English
| MEDLINE | ID: mdl-37163662
3.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36305855
4.
[Myasthenia in adults, children, and adolescents: what's new?] / Myasthenie bei Erwachsenen, Kindern und Jugendlichen was ist neu?
Nervenarzt
; 94(6): 501-509, 2023 Jun.
Article
in German
| MEDLINE | ID: mdl-36995386
5.
[Essen transition model for neuromuscular diseases]. / "Essener Transitionsmodell" bei neuromuskulären Erkrankungen.
Nervenarzt
; 94(2): 129-135, 2023 Feb.
Article
in German
| MEDLINE | ID: mdl-35254466
6.
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.
Hum Mutat
; 43(4): 477-486, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35112411
7.
Natural Course of Cerebral Cavernous Malformations in Children: A Five-Year Follow-Up Study.
Stroke
; 53(3): 817-824, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34706565
8.
Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages.
Neuropathol Appl Neurobiol
; 47(6): 856-866, 2021 10.
Article
in English
| MEDLINE | ID: mdl-33973272
9.
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.
Int J Mol Sci
; 22(15)2021 Jul 22.
Article
in English
| MEDLINE | ID: mdl-34360601
10.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100828, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-37272928
11.
Juvenile myasthenia gravis: recommendations for diagnostic approaches and treatment.
Neuropediatrics
; 45(2): 75-83, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24470240
12.
Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.
J Neurol
; 271(3): 1331-1341, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37923938
13.
Pediatric Community-Acquired Brain Abscesses: A Single-center Retrospective Study.
Pediatr Infect Dis J
; 43(6): e214-e217, 2024 Jun 01.
Article
in English
| MEDLINE | ID: mdl-38451881
14.
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.
J Neuromuscul Dis
; 11(3): 625-645, 2024.
Article
in English
| MEDLINE | ID: mdl-38578900
15.
Giant Cavernous Malformation Mimicking an Infiltrative Intracranial Neoplasm in Children-Case Report and Systematic Review of the Literature.
World Neurosurg
; 174: 30-41, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-36889633
16.
High Prevalence of Alternative Diagnoses in Children and Adolescents with Suspected Long COVID-A Single Center Cohort Study.
Viruses
; 15(2)2023 02 20.
Article
in English
| MEDLINE | ID: mdl-36851793
17.
Risk and course of COVID-19 in immunosuppressed patients with myasthenia gravis.
J Neurol
; 270(1): 1-12, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36166068
18.
Guideline for the management of myasthenic syndromes.
Ther Adv Neurol Disord
; 16: 17562864231213240, 2023.
Article
in English
| MEDLINE | ID: mdl-38152089
19.
Congenital myasthenic syndromes: current diagnostic and therapeutic approaches.
Neuropediatrics
; 43(4): 184-93, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22911480
20.
Outcome after Robotic-Assisted Thymectomy in Children and Adolescents with Acetylcholine Receptor Antibody-Positive Juvenile Myasthenia Gravis.
Neuropediatrics
; 48(4): 315-322, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28628938