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1.
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Genet Med
; 21(3): 553-563, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29997391
2.
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
J Neurol Neurosurg Psychiatry
; 83(10): 956-62, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22832740
3.
Reading Comprehension Impairment in Children With Neurofibromatosis Type 1 (NF1): The Need of Multimodal Assessment of Attention.
J Child Neurol
; 36(8): 625-634, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33507832
4.
Implication of folate deficiency in CYP2U1 loss of function.
J Exp Med
; 218(11)2021 11 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34546337
5.
Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders.
Mov Disord
; 25(11): 1605-11, 2010 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-20629163
6.
Attention and Executive Disorders in Neurofibromatosis 1: Comparison Between NF1 With ADHD Symptomatology (NF1 + ADHD) and ADHD Per Se.
J Atten Disord
; 24(13): 1807-1823, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28587546
7.
Clinical Management of Children and Adolescents with Neurofibromatosis Type 1 Like Phenotypes and Complex Behavioural Manifestations: A Multidisciplinary and Dimensional Approach.
Case Rep Psychiatry
; 2019: 4764031, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-32089936
8.
Deficit in phonological processes: a characteristic of the neuropsychological profile of children with NF1.
Child Neuropsychol
; 24(4): 558-574, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28393676
9.
Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort.
Eur J Paediatr Neurol
; 20(2): 275-281, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26774135
10.
The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial.
Orphanet J Rare Dis
; 9: 142, 2014 Sep 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-25205361
11.
Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France.
Orphanet J Rare Dis
; 6: 18, 2011 May 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-21542925
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