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1.
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Am J Hum Genet
; 110(6): 989-997, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-37167966
2.
Anterior cervical discectomy and fusion for the treatment of pediatric Hirayama disease.
Childs Nerv Syst
; 40(5): 1427-1434, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38231402
3.
Bethlem Myopathy (Collagen VI-Related Dystrophies): A Retrospective Cohort Study on Musculoskeletal Pathologies and Clinical Course.
J Pediatr Orthop
; 43(2): e163-e167, 2023 Feb 01.
Article
in English
| MEDLINE | ID: mdl-36607927
4.
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease.
Muscle Nerve
; 63(3): 304-310, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33146414
5.
Double Vision and Gait Ataxia in an Immunocompetent 9-Year-Old Girl With Intracranial Phaeohyphomycosis.
J Neuroophthalmol
; 41(3): 399-403, 2021 09 01.
Article
in English
| MEDLINE | ID: mdl-33630777
6.
Cognitive processing speed in pediatric-onset multiple sclerosis: Baseline characteristics of impairment and prediction of decline.
Mult Scler
; 26(14): 1938-1947, 2020 12.
Article
in English
| MEDLINE | ID: mdl-31775571
7.
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Am J Hum Genet
; 99(4): 831-845, 2016 Oct 06.
Article
in English
| MEDLINE | ID: mdl-27640307
8.
Ultrasound-guided cervical puncture for nusinersen administration in adolescents.
Pediatr Radiol
; 49(1): 136-140, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30167764
9.
Dietary factors and pediatric multiple sclerosis: A case-control study.
Mult Scler
; 24(8): 1067-1076, 2018 07.
Article
in English
| MEDLINE | ID: mdl-28608728
10.
Health-Related Quality of Life in Pediatric Patients With Demyelinating Diseases: Relevance of Disability, Relapsing Presentation, and Fatigue.
J Pediatr Psychol
; 43(2): 133-142, 2018 03 01.
Article
in English
| MEDLINE | ID: mdl-29049805
11.
Correction to: Impact of an electronic monitoring device and behavioural feedback on adherence to multiple sclerosis therapies in youth: results of a randomized trial.
Qual Life Res
; 27(4): 1117, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29274015
12.
Identifying Opportunities to Provide Family-centered Care for Families With Children With Type 1 Spinal Muscular Atrophy.
J Pediatr Nurs
; 43: 111-119, 2018.
Article
in English
| MEDLINE | ID: mdl-30266528
13.
Lung Transplantation for FLNA-Associated Progressive Lung Disease.
J Pediatr
; 186: 118-123.e6, 2017 07.
Article
in English
| MEDLINE | ID: mdl-28457522
14.
Impact of an electronic monitoring device and behavioral feedback on adherence to multiple sclerosis therapies in youth: results of a randomized trial.
Qual Life Res
; 26(9): 2333-2349, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28393317
15.
Utility of whole exome sequencing in evaluation of juvenile motor neuron disease.
Muscle Nerve
; 53(4): 648-52, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26788680
16.
Headache and Hypoglossal Nerve Palsy in a Child With Idiopathic Hypertrophic Pachymeningitis.
Headache
; 59(8): 1390-1391, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31294820
17.
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
18.
Fulminant Anti-Myelin Oligodendrocyte Glycoprotein-Associated Cerebral Cortical Encephalitis: Case Series of a Severe Pediatric Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Phenotype.
Pediatr Neurol
; 147: 36-43, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37544084
19.
Therapeutic Response in Pediatric Neuromyelitis Optica Spectrum Disorder.
Neurology
; 100(9): e985-e994, 2023 02 28.
Article
in English
| MEDLINE | ID: mdl-36460473
20.
A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome.
Am J Med Genet A
; 158A(8): 1962-6, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22488736