Search details
1.
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.
Am J Hum Genet
; 109(10): 1885-1893, 2022 10 06.
Article
in English
| MEDLINE | ID: mdl-36103875
2.
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Ann Neurol
; 94(3): 470-485, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37243847
3.
Parenting stress in families of children with disabilities: Impact of type of disability and assessment of attending paediatricians.
Child Care Health Dev
; 50(1): e13193, 2024 01.
Article
in English
| MEDLINE | ID: mdl-37908180
4.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36331550
5.
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
Clin Genet
; 103(2): 226-230, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36189577
6.
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Brain
; 145(6): 1916-1923, 2022 06 30.
Article
in English
| MEDLINE | ID: mdl-35202461
7.
Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy.
Neuropediatrics
; 53(6): 432-435, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35817355
8.
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Genet Med
; 23(6): 1050-1057, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33495529
9.
Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.
Neuropediatrics
; 52(4): 274-283, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33791999
10.
Unusual mechanical failures of intrathecal baclofen pump systems: symptoms, signs, and trouble shooting.
Childs Nerv Syst
; 37(8): 2597-2604, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33834279
11.
The "Ivy-Sign" in Moyamoya Disease-From MRI Pattern to Diagnosis.
Neuropediatrics
; 51(4): 241-244, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32232811
12.
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C.
Neuropediatrics
; 51(1): 37-44, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31639880
13.
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.
Mov Disord
; 38(6): 1109-1112, 2023 06.
Article
in English
| MEDLINE | ID: mdl-37027459
14.
Oligoclonal bands predict multiple sclerosis in children with optic neuritis.
Ann Neurol
; 77(6): 1076-82, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25820181
15.
[Unusual Localisation of a Borrelia Lymphocytoma]. / Ungewöhnliche Lokalisation eines Borrelien-Lymphozytoms.
Klin Monbl Augenheilkd
; 2021 Dec 15.
Article
in German
| MEDLINE | ID: mdl-34911119
16.
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
J Med Genet
; 50(3): 194-7, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23355746
17.
Still an Unsolved Question: The Place of Cranial Magnetic Resonance Imaging in Acute Acquired Concomitant Esotropia.
Children (Basel)
; 11(5)2024 Apr 26.
Article
in English
| MEDLINE | ID: mdl-38790514
18.
The Impact of Demographic Characteristics on Parenting Stress among Parents of Children with Disabilities: A Cross-Sectional Study.
Children (Basel)
; 11(2)2024 Feb 13.
Article
in English
| MEDLINE | ID: mdl-38397351
19.
Cerebrospinal Fluid Protein Concentrations in Hydrocephalus.
Children (Basel)
; 10(4)2023 Mar 30.
Article
in English
| MEDLINE | ID: mdl-37189895
20.
Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis.
Front Genet
; 14: 1297754, 2023.
Article
in English
| MEDLINE | ID: mdl-38188501