Detalhe da pesquisa
1.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33961779
2.
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Brain
; 146(2): 668-677, 2023 02 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35857854
3.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-32883358
4.
Repeated AAV9 Titer Determination in a Presymptomatic SMA Patient with Three SMN2 Gene Copies - A Case Report.
J Neuromuscul Dis
; 11(2): 493-498, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38306058
5.
Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1.
Mol Genet Metab Rep
; 38: 101031, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38077957
6.
Corrigendum to "Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1".
Mol Genet Metab Rep
; 38: 101039, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38469095
7.
Blood parameters in pediatric myelin oligodendrocyte glycoprotein antibody-associated disorders.
Eur J Paediatr Neurol
; 50: 86-95, 2024 Apr 24.
Artigo
Inglês
| MEDLINE | ID: mdl-38705015
8.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
JAMA Pediatr
; 178(6): 540-547, 2024 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38587854
9.
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
J Neurol
; 270(2): 909-916, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36308527
10.
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.
Neurol Neuroimmunol Neuroinflamm
; 9(6)2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36229191
11.
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Orphanet J Rare Dis
; 17(1): 384, 2022 10 23.
Artigo
Inglês
| MEDLINE | ID: mdl-36274155
12.
MRI of the first event in pediatric acquired demyelinating syndromes with antibodies to myelin oligodendrocyte glycoprotein.
J Neurol
; 265(4): 845-855, 2018 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-29423614
13.
Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome.
Neurology
; 89(9): 900-908, 2017 Aug 29.
Artigo
Inglês
| MEDLINE | ID: mdl-28768844
14.
Facial nerve paralysis in children: is it as benign as supposed?
Pediatr Neurol
; 49(3): 178-81, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23831251