Search details
1.
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Brain
; 146(10): 4233-4246, 2023 10 03.
Article
in English
| MEDLINE | ID: mdl-37186601
2.
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Am J Med Genet A
; 188(9): 2783-2789, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35616428
3.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
; 144(2): 584-600, 2021 03 03.
Article
in English
| MEDLINE | ID: mdl-33559681
4.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33449170
5.
Epilepsy in Duchenne and Becker muscular dystrophies.
Ann Clin Transl Neurol
; 2024 May 01.
Article
in English
| MEDLINE | ID: mdl-38693632
6.
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.
Lancet Reg Health Eur
; 37: 100817, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38169987
7.
New treatments in spinal muscular atrophy.
Arch Dis Child
; 108(7): 511-517, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36316089
8.
Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease.
Neuromuscul Disord
; 33(11): 866-872, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37919205
9.
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
J Neuromuscul Dis
; 10(4): 541-554, 2023.
Article
in English
| MEDLINE | ID: mdl-37154182
10.
Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.
Brain Commun
; 4(6): fcac292, 2022.
Article
in English
| MEDLINE | ID: mdl-36751502
11.
Genetic neuropathies presenting with CIDP-like features in childhood.
Neuromuscul Disord
; 31(2): 113-122, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33386210
12.
COVID-19 in children with neuromuscular disorders.
J Neurol
; 268(9): 3081-3085, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-33387010
13.
Alteraciones reversibles en la neuroimagen asociadas al tratamiento con vigabatrina en lactantes con espasmos epilépticos / Reversible alterations in the neuroimages associated with vigabatrine treatment in infants with epileptic spasms
Rev. neurol. (Ed. impr.)
; 64(4): 169-174, 16 feb., 2017. ilus
Article
in Spanish
| IBECS (Spain) | ID: ibc-160508
Results
1 -
13
de 13
1
Next >
>>