Detalhe da pesquisa
1.
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Brain
; 2024 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38848546
2.
Efficacy and Safety of Panitumumab in Patients With RAF/RAS-Wild-Type Glioblastoma: Results From the Drug Rediscovery Protocol.
Oncologist
; 29(5): 431-440, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38109296
3.
Heparin-resistance in AL amyloidosis: a case report.
BMC Anesthesiol
; 23(1): 217, 2023 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37344791
4.
Early Restrictive Fluid Strategy Impairs the Diaphragm Force in Lambs with Acute Respiratory Distress Syndrome.
Anesthesiology
; 136(5): 749-762, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35320344
5.
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
J Pathol
; 255(2): 202-211, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34231212
6.
Partial Adrenalectomy Carries a Considerable Risk of Incomplete Cure in Primary Aldosteronism.
J Urol
; 206(2): 219-228, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33787321
7.
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Clin Genet
; 100(6): 692-702, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34463354
8.
Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1.
Acta Neuropathol
; 141(2): 281-290, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33319313
9.
Reduced specific force in patients with mild and severe facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 63(1): 60-67, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32959362
10.
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
BMC Neurol
; 21(1): 313, 2021 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34384384
11.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Brain
; 143(2): 452-466, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040565
12.
Human brain pathology in myotonic dystrophy type 1: A systematic review.
Neuropathology
; 41(1): 3-20, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33599033
13.
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Clin Genet
; 97(4): 556-566, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31957011
14.
Inclusion body myositis in patients with spinocerebellar ataxia types 3 and 6.
J Neurol Neurosurg Psychiatry
; 91(8): 876-878, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576615
15.
Isocitrate dehydrogenase 1-mutated human gliomas depend on lactate and glutamate to alleviate metabolic stress.
FASEB J
; 33(1): 557-571, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30001166
16.
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Hum Mutat
; 40(7): 962-974, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30932294
17.
Expression profiling of immune inhibitory Siglecs and their ligands in patients with glioma.
Cancer Immunol Immunother
; 68(6): 937-949, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30953118
18.
Subacute parkinsonism due to systemic lupus erythematosus and catastrophic antiphospholipid syndrome.
Lancet
; 400(10367): 1966, 2022 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36463907
19.
Development of Nerve Fibre Diameter in Young Infants With Hirschsprung Disease.
J Pediatr Gastroenterol Nutr
; 66(2): 253-256, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28582312
20.
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Acta Neuropathol
; 134(6): 889-904, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28685322