Search details
1.
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
2.
Neurological features of Noonan syndrome and related RASopathies: Pain and nerve enlargement characterized by nerve ultrasound.
Am J Med Genet A
; 188(6): 1801-1807, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35258168
3.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Article
in English
| MEDLINE | ID: mdl-33970200
4.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Ann Neurol
; 88(2): 251-263, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32337771
5.
Limb girdle muscular dystrophy due to mutations in POMT2.
J Neurol Neurosurg Psychiatry
; 89(5): 506-512, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29175898
6.
PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway.
Brain
; 144(2): e17, 2021 03 03.
Article
in English
| MEDLINE | ID: mdl-33230519
7.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(8): e70, 2021 09 04.
Article
in English
| MEDLINE | ID: mdl-34480796
8.
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.
J Neurol Neurosurg Psychiatry
; 90(4): 490-493, 2019 04.
Article
in English
| MEDLINE | ID: mdl-29921608
9.
Contracturing granulomatous myositis in a patient with rheumatoid arthritis: a case report.
Neuromuscul Disord
; 36: 38-41, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38350265
10.
Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases.
Brain Commun
; 6(2): fcae070, 2024.
Article
in English
| MEDLINE | ID: mdl-38495304
11.
Distinct features in adult polyglucosan body disease: a case series.
Neuromuscul Disord
; 33(2): 148-152, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36628840
12.
A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype.
Neuromuscul Disord
; 33(5): 432-439, 2023 05.
Article
in English
| MEDLINE | ID: mdl-37104941
13.
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
J Neurol
; 270(12): 5849-5865, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37603075
14.
High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients.
Neuromuscul Disord
; 31(11): 1154-1160, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34172358
15.
Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected.
Neurology
; 94(8): e785-e796, 2020 02 25.
Article
in English
| MEDLINE | ID: mdl-31848255
16.
Exertional rhabdomyolysis: Relevance of clinical and laboratory findings, and clues for investigation.
Anaesth Intensive Care
; 47(2): 128-133, 2019 Mar.
Article
in English
| MEDLINE | ID: mdl-31070454
17.
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.
Neuromuscul Disord
; 29(12): 951-960, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31791869
18.
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES.
Neurol Genet
; 5(2): e321, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-31119192
19.
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCPmediated disease reveals characteristic features useful for diagnosis.
J Neurol
; 271(4): 2147-2148, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38349561
20.
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
Skelet Muscle
; 8(1): 23, 2018 07 30.
Article
in English
| MEDLINE | ID: mdl-30060766
Results
1 -
20
de 20
1
Next >
>>