Detalhe da pesquisa
1.
Design and Use of a 3D-Printed Dynamic Upper Extremity Orthosis for Children With Cerebral Palsy and Severe Upper Extremity Involvement: A Pilot Study.
Am J Occup Ther
; 77(4)2023 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37611318
2.
Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness.
Exp Eye Res
; 221: 109143, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35697328
3.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Ann Neurol
; 88(1): 18-32, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32219868
4.
Sixth cranial nerve palsy after first intrathecal nusinersen administration.
Neurol Sci
; 43(3): 2091-2093, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34989911
5.
Magnetic resonance imaging with diffusion-weighted imaging in the evaluation of thyroid-associated orbitopathy: getting below the tip of the iceberg.
Eur Radiol
; 24(5): 1118-26, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24519110
6.
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.
J Neurol
; 270(9): 4219-4234, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37171481
7.
The Pre-Lumbar puncture Intracranial Hypertension Scale (PLIHS): A practical scale to identify subjects with normal cerebrospinal fluid pressure in the management of idiopathic intracranial hypertension.
J Neurol Sci
; 429: 118058, 2021 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34461550
8.
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.
Front Neurol
; 12: 657317, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34177762
9.
Retinal Photoreceptor Functions Are Compromised in Patients With Resistance to Thyroid Hormone Syndrome (RTHß).
J Clin Endocrinol Metab
; 102(7): 2620-2627, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28379567
10.
Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.
J Neurol
; 262(5): 1216-27, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25794858
11.
Treatment of thyroid-associated orbitopathy with rituximab--a novel therapy for an old disease: case report and literature review.
Endocr Pract
; 16(4): 677-85, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20350915