Search details
1.
Genetic etiology of progressive pediatric neurological disorders.
Pediatr Res
; 95(1): 102-111, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37563452
2.
Early disc degeneration in radiotherapy-treated childhood brain tumor survivors.
BMC Musculoskelet Disord
; 24(1): 441, 2023 May 31.
Article
in English
| MEDLINE | ID: mdl-37259117
3.
Health-related quality of life in long-term survivors of childhood brain tumors: a population-based cohort study.
Support Care Cancer
; 30(6): 5157-5166, 2022 Jun.
Article
in English
| MEDLINE | ID: mdl-35243538
4.
Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.
J Inherit Metab Dis
; 44(2): 469-480, 2021 03.
Article
in English
| MEDLINE | ID: mdl-32857451
5.
Screening of hydrocephalus in infants using either WHO or population-based head circumference reference charts.
Acta Paediatr
; 110(3): 881-888, 2021 03.
Article
in English
| MEDLINE | ID: mdl-32794225
6.
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Am J Hum Genet
; 101(5): 856-865, 2017 Nov 02.
Article
in English
| MEDLINE | ID: mdl-29100095
7.
The spectrum of acute central nervous system symptoms during the treatment of childhood acute lymphoblastic leukaemia.
Pediatr Blood Cancer
; 67(2): e27999, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31674724
8.
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
Hum Mol Genet
; 26(8): 1432-1443, 2017 04 15.
Article
in English
| MEDLINE | ID: mdl-28158749
9.
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Am J Hum Genet
; 99(3): 735-743, 2016 09 01.
Article
in English
| MEDLINE | ID: mdl-27545679
10.
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.
J Med Genet
; 55(1): 21-27, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29101127
11.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet
; 55(2): 104-113, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29097605
12.
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.
Neurogenetics
; 19(1): 49-53, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29350304
13.
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
Brain
; 140(5): 1267-1279, 2017 05 01.
Article
in English
| MEDLINE | ID: mdl-28335020
14.
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Brain
; 140(8): 2093-2103, 2017 Aug 01.
Article
in English
| MEDLINE | ID: mdl-28633435
15.
Posterior Reversible Encephalopathy Syndrome: Risk Factors and Impact on the Outcome in Children With Acute Lymphoblastic Leukemia Treated With Nordic Protocols.
J Pediatr Hematol Oncol
; 40(1): e13-e18, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29200159
16.
Cerebellar mutism syndrome in children with brain tumours of the posterior fossa.
BMC Cancer
; 17(1): 439, 2017 Jun 21.
Article
in English
| MEDLINE | ID: mdl-28637445
17.
Neonatal somatosensory evoked potentials persist during hypothermia.
Acta Paediatr
; 106(6): 912-917, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28258592
18.
Metronomic therapy can increase quality of life during paediatric palliative cancer care, but careful patient selection is essential.
Acta Paediatr
; 105(8): 946-51, 2016 Aug.
Article
in English
| MEDLINE | ID: mdl-26801815
19.
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
Hum Mol Genet
; 22(15): 2975-83, 2013 Aug 01.
Article
in English
| MEDLINE | ID: mdl-23562820
20.
Radiation therapy and concurrent topotecan followed by maintenance triple anti-angiogenic therapy with thalidomide, etoposide, and celecoxib for pediatric diffuse intrinsic pontine glioma.
Pediatr Blood Cancer
; 61(9): 1603-9, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24692119