Detalhe da pesquisa
1.
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Hum Mutat
; 43(4): 487-498, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077597
2.
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Neuropathol Appl Neurobiol
; 48(2): e12771, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34648194
3.
Neurology and the histiocytoses: a case of Rosai-Dorfman-Destombes disease.
Pract Neurol
; 2022 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35534197
4.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33449170
5.
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.
Neuropediatrics
; 52(5): 390-393, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33352606
6.
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Hum Mol Genet
; 27(24): 4263-4272, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30215711
7.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet
; 100(3): 523-536, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190456
8.
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Genet Med
; 22(1): 199-209, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31462754
9.
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.
J Inherit Metab Dis
; 43(5): 1002-1013, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32187699
10.
A thoracic extradural chordoid meningioma: a unique case report and literature review.
Br J Neurosurg
; 34(1): 112-114, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29355032
11.
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.
Brain
; 141(12): 3308-3318, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30423015
12.
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Hum Mutat
; 39(12): 1980-1994, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30168660
13.
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 89(7): 762-768, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29437916
14.
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
Hum Mutat
; 38(8): 970-977, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28544275
15.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol
; 133(4): 517-533, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012042
16.
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Brain
; 139(Pt 3): 674-91, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26700687
17.
Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series.
J Neurol Neurosurg Psychiatry
; 87(5): 512-9, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25935893
18.
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
Brain
; 138(Pt 2): 293-310, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25497877
19.
Diagnosis of neuroinvasive astrovirus infection in an immunocompromised adult with encephalitis by unbiased next-generation sequencing.
Clin Infect Dis
; 60(6): 919-23, 2015 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25572898
20.
Qualitative Ultrasound in Acute Critical Illness Muscle Wasting.
Crit Care Med
; 43(8): 1603-11, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25882765