Search details
1.
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cerebellum
; 2024 Apr 15.
Article
in English
| MEDLINE | ID: mdl-38622473
2.
Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.
Am J Med Genet A
; 194(6): e63533, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38234231
3.
High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.
Ann Hum Genet
; 87(3): 104-114, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36575883
4.
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
Muscle Nerve
; 68(2): 157-170, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37409780
5.
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.
Eur J Neurol
; 30(12): 3646-3674, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37814552
6.
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.
J Peripher Nerv Syst
; 28(4): 535-563, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37814551
7.
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
J Med Genet
; 59(11): 1069-1074, 2022 11.
Article
in English
| MEDLINE | ID: mdl-35393337
8.
Alterations in insulin-like growth factor system in spinal muscular atrophy.
Muscle Nerve
; 66(5): 631-638, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36050898
9.
The effect of aerobic training on motor function and muscle architecture in children with Duchenne muscular dystrophy: A randomized controlled study.
Clin Rehabil
; 36(8): 1062-1071, 2022 Aug.
Article
in English
| MEDLINE | ID: mdl-35443813
10.
The Common miRNA Signatures Associated with Mitochondrial Dysfunction in Different Muscular Dystrophies.
Am J Pathol
; 190(10): 2136-2145, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32650001
11.
Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.
Am J Med Genet A
; 185(2): 344-354, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33155358
12.
European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision.
Eur J Neurol
; 28(11): 3556-3583, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34327760
13.
European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision.
J Peripher Nerv Syst
; 26(3): 242-268, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34085743
14.
Inflammatory milieu of muscle biopsies in juvenile dermatomyositis.
Rheumatol Int
; 41(1): 77-85, 2021 Jan.
Article
in English
| MEDLINE | ID: mdl-33106894
15.
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
N Engl J Med
; 377(18): 1723-1732, 2017 11 02.
Article
in English
| MEDLINE | ID: mdl-29091570
16.
Correction: The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(8): 1426-1428, 2020 Aug.
Article
in English
| MEDLINE | ID: mdl-32451403
17.
The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(3): 511-523, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31680123
18.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Am J Hum Genet
; 98(6): 1130-1145, 2016 Jun 02.
Article
in English
| MEDLINE | ID: mdl-27259049
19.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
Am J Hum Genet
; 99(5): 1086-1105, 2016 Nov 03.
Article
in English
| MEDLINE | ID: mdl-27745833
20.
Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience.
Neuropediatrics
; 50(1): 41-45, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30453357