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1.
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
Am J Hum Genet;
95(6): 708-20, 2014 Dec 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-25434004
2.
Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease.
J Neurol Neurosurg Psychiatry;
87(8): 897-905, 2016 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-26645082
3.
A multicenter, matched case-control analysis comparing burden of illness among patients with tuberous sclerosis complex related epilepsy, generalized idiopathic epilepsy, and focal epilepsy in Germany.
Neurol Res Pract;
6(1): 29, 2024 May 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38812055
4.
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.
Neurogenetics;
14(3-4): 205-13, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-24052401
5.
Quality of life and its predictors in adults with tuberous sclerosis complex (TSC): a multicentre cohort study from Germany.
Neurol Res Pract;
3(1): 35, 2021 Jun 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-34176514
6.
Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature.
Orphanet J Rare Dis;
16(1): 250, 2021 06 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34078440
7.
Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany.
Eur J Paediatr Neurol;
35: 111-122, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34673401
8.
Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature.
Expert Rev Clin Pharmacol;
14(6): 749-760, 2021 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-33792454
9.
Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives.
CNS Drugs;
35(10): 1107-1122, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34275102
10.
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study.
Orphanet J Rare Dis;
16(1): 282, 2021 06 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-34154622
11.
Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome.
Neurology;
89(9): 900-908, 2017 Aug 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-28768844
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