Search details
1.
Genome Sequencing for Diagnosing Rare Diseases.
N Engl J Med
; 390(21): 1985-1997, 2024 Jun 06.
Article
in English
| MEDLINE | ID: mdl-38838312
2.
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Brain
; 2024 Feb 15.
Article
in English
| MEDLINE | ID: mdl-38366623
3.
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids.
Eur J Neurol
; 31(6): e16267, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38556893
4.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet
; 107(6): 1078-1095, 2020 12 03.
Article
in English
| MEDLINE | ID: mdl-33217308
5.
An update on Becker muscular dystrophy.
Curr Opin Neurol
; 36(5): 450-454, 2023 10 01.
Article
in English
| MEDLINE | ID: mdl-37591308
6.
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
Acta Neuropathol
; 145(1): 127-143, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36264506
7.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Brain
; 145(2): 596-606, 2022 04 18.
Article
in English
| MEDLINE | ID: mdl-34515763
8.
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
9.
Understanding paediatric data standards challenges through academia-industry partnerships: A conect4children (c4c) qualitative study.
Int J Health Plann Manage
; 38(2): 416-429, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36335084
10.
Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy.
Hum Mutat
; 43(9): 1234-1238, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35607917
11.
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
Neuropathol Appl Neurobiol
; 48(7): e12846, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35962550
12.
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
Ann Neurol
; 89(5): 967-978, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33576057
13.
Comparison of strength testing modalities in dysferlinopathy.
Muscle Nerve
; 66(2): 159-166, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35506767
14.
Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study.
Muscle Nerve
; 65(1): 67-74, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34606104
15.
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Muscle Nerve
; 65(5): 531-540, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35179231
16.
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Eur J Neurol
; 29(6): 1815-1824, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35239206
17.
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA
; 327(15): 1456-1468, 2022 04 19.
Article
in English
| MEDLINE | ID: mdl-35381069
18.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Ann Neurol
; 88(2): 332-347, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32403198
19.
Skeletal muscle magnetic resonance imaging in Pompe disease.
Muscle Nerve
; 63(5): 640-650, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33155691
20.
Effects of cardiac medications on ventricular function in patients with Duchenne muscular dystrophy-related cardiomyopathy.
Muscle Nerve
; 64(2): 163-171, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34050938