Search details
1.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Brain
; 2024 Mar 08.
Article
in English
| MEDLINE | ID: mdl-38456468
2.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Article
in English
| MEDLINE | ID: mdl-33970200
3.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Ann Neurol
; 86(2): 225-240, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31187503
4.
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Mov Disord
; 33(7): 1119-1129, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29603387
5.
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Brain
; 139(Pt 7): 1904-18, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27217339
6.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(8): e70, 2021 09 04.
Article
in English
| MEDLINE | ID: mdl-34480796
7.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
medRxiv
; 2024 Feb 13.
Article
in English
| MEDLINE | ID: mdl-38405817
8.
Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.
J Neurol Neurosurg Psychiatry
; 89(11): 1226-1227, 2018 11.
Article
in English
| MEDLINE | ID: mdl-29367260
9.
Long-term outcomes of plasma exchange versus intravenous immunoglobulin for the treatment of Guillain-Barré Syndrome: A double-blind, randomized clinical trial.
Restor Neurol Neurosci
; 41(5-6): 203-217, 2023.
Article
in English
| MEDLINE | ID: mdl-38217554
10.
Predictors of long-term health-related quality of life in Guillain-Barré syndrome: A hospital-based study.
Clin Neurol Neurosurg
; 235: 108026, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37913589
11.
Myasthenia gravis with achalasia secondary to thymoma: a case report and literature review.
Egypt J Neurol Psychiatr Neurosurg
; 59(1): 34, 2023.
Article
in English
| MEDLINE | ID: mdl-36936607
12.
Effects of transcranial direct current stimulation in pain and opioid consumption after spine surgery.
Eur J Pain
; 26(7): 1594-1604, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35634761
13.
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nat Genet
; 52(5): 473-481, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32367058
14.
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nat Genet
; 52(6): 640, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32457452
15.
An update on advances in magnetic resonance imaging of multiple system atrophy.
J Neurol
; 266(4): 1036-1045, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-30460448
16.
Efecto de la estimulación transcraneal mediante corriente continua sobre el dolor y el consumo de opioides después de la cirugía raquídea / Effects of transcranial direct current stimulation in pain and opioid consumption after spine surgery
Rev. Soc. Esp. Dolor
; 30(1): 49-59, 2023.
Article
in Spanish
| IBECS (Spain) | ID: ibc-220855
17.
Severe axonal neuropathy is a late manifestation of SPG11.
J Neurol
; 263(11): 2278-2286, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27544499
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