Search details
1.
A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness.
Brain
; 145(10): e99-e102, 2022 10 21.
Article
in English
| MEDLINE | ID: mdl-35915960
2.
Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report.
Mitochondrion
; 76: 101879, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38599303
3.
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
J Neurol
; 271(2): 986-994, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37907725
4.
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Neurol Genet
; 10(2): e200138, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38544965
5.
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Neurology
; 102(7): e209174, 2024 Apr 09.
Article
in English
| MEDLINE | ID: mdl-38513194
6.
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.
J Clin Med
; 12(9)2023 May 06.
Article
in English
| MEDLINE | ID: mdl-37176748
7.
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Neuromuscul Disord
; 33(12): 983-987, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-38016875
8.
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome.
J Clin Med
; 12(6)2023 Mar 22.
Article
in English
| MEDLINE | ID: mdl-36983435
9.
Plasmapheresis in the Treatment of Refractory Myoclonic Status. A Case Report.
J Crit Care Med (Targu Mures)
; 7(4): 290-293, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34934819
10.
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.
J Clin Med
; 11(1)2021 Dec 22.
Article
in English
| MEDLINE | ID: mdl-35011763
11.
Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.
J Neurol
; 267(9): 2546-2555, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-32367299
12.
Miller Fisher syndrome and polyneuritis cranialis in COVID-19.
Neurology
; 95(5): e601-e605, 2020 08 04.
Article
in English
| MEDLINE | ID: mdl-32303650
13.
Generalized myoclonus in COVID-19.
Neurology
; 95(6): e767-e772, 2020 08 11.
Article
in English
| MEDLINE | ID: mdl-32439821
14.
Low Amyloid-PET Uptake in Iowa-Type Cerebral Amyloid Angiopathy with Cerebral Venous Thrombosis.
J Alzheimers Dis
; 72(3): 677-681, 2019.
Article
in English
| MEDLINE | ID: mdl-31640101
15.
Signo de "sal y pimienta" como presentación de una lesión pontina no vascular / "Salt and pepper" sign in the onset of a non-vascular pontine pathology
Rev. neurol. (Ed. impr.)
; 69(3): 133-134, 1 ago., 2019. ilus
Article
in Spanish
| IBECS (Spain) | ID: ibc-184026
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