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1.
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.
Am J Hum Genet
; 108(7): 1318-1329, 2021 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34077761
2.
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.
Neuropediatrics
; 55(2): 140-145, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-37846133
3.
Cognitive development in children with new-onset Rolandic epilepsy and Rolandic discharges without seizures: Focusing on intelligence, visual perception, working memory and the role of parents' education.
Epilepsy Behav
; 152: 109596, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38350362
4.
Age-dependent favorable visual recovery despite significant retinal atrophy in pediatric MOGAD: how much retina do you really need to see well?
J Neuroinflammation
; 18(1): 121, 2021 May 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-34051804
5.
Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients.
J Neuroinflammation
; 17(1): 262, 2020 Sep 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32883358
6.
[Huntington's disease with childhood and adolescent onset: course of disease, clinical presentation and diagnostic challenges]. / Zur Huntington-Erkrankung im Kindes- und Jugendalter Erkrankung, klinische Präsentation und Probleme der Diagnostik.
Fortschr Neurol Psychiatr
; 88(10): 661-667, 2020 Oct.
Artículo
en Alemán
| MEDLINE | ID: mdl-32369858
7.
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
8.
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.
Mol Cell Probes
; 29(5): 319-22, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26327357
9.
Long survival in Leigh syndrome: new cases and review of literature.
Neuropediatrics
; 45(6): 346-53, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25111564
10.
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
11.
Canavan's spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature.
J Ultrasound
; 26(4): 757-764, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-35187608
12.
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
Hum Mutat
; 33(3): 485-7, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22213132
13.
MR imaging in children with transverse myelitis and acquired demyelinating syndromes.
Mult Scler Relat Disord
; 67: 104068, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-35933757
14.
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.
Neurol Neuroimmunol Neuroinflamm
; 9(6)2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36229191
15.
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
16.
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
17.
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
18.
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
19.
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
20.
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