Detalhe da pesquisa
1.
Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
Neurol Sci
; 44(1): 329-337, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36175810
2.
Perioperative complications after posterior spinal fusion versus minimally invasive fusionless surgery in neuromuscular scoliosis: a comparative study.
Arch Orthop Trauma Surg
; 143(8): 4605-4612, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36534211
3.
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
Neurogenetics
; 22(4): 333-341, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405299
4.
Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy: Long-term Follow-up Results in a Series of 59 Patients.
J Pediatr Orthop
; 41(9): 549-558, 2021 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34411042
5.
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
Circulation
; 140(4): 293-302, 2019 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155932
6.
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Hum Genet
; 139(10): 1325-1343, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32399598
7.
Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement.
Muscle Nerve
; 61(2): 143-155, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31724199
8.
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Am J Med Genet A
; 179(6): 915-926, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30868735
9.
Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests.
Muscle Nerve
; 59(4): 436-444, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30578674
10.
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
11.
MRI in sarcoglycanopathies: a large international cohort study.
J Neurol Neurosurg Psychiatry
; 89(1): 72-77, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28889091
12.
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.
Muscle Nerve
; 58(6): 812-817, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30066418
13.
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
Muscle Nerve
; 58(2): 224-234, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29624713
14.
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.
Eur Radiol
; 28(12): 5293-5303, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29802573
15.
Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
Neurol Sci
; 44(3): 1139, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36418612
16.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol
; 133(4): 517-533, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012042
17.
Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.
Cardiol Young
; 27(6): 1076-1082, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27938454
18.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Hum Mol Genet
; 23(9): 2279-89, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24319099
19.
Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.
J Cell Sci
; 127(Pt 13): 2873-84, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24806962
20.
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.
Muscle Nerve
; 54(2): 192-202, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26670690