Suchergebnisse - "Arnardottir, Snjolaug"

PubPharm (21)

1

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

enthalten in: Frontiers in neurology | 2023

von Ek, M. | Nilsson, D. | Engvall, M. | +16

2

Novel Cysteine-Sparing Hypomorphic NOTCH3 A1604T Mutation Observed in a Family With Migraine and White Matter Lesions

enthalten in: Neurology. Genetics | 2021

von Arnardottir, S. | Del Gaudio, F. | Klironomos, S. | +7

3

2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups

enthalten in: Annals of the rheumatic diseases | 2017

von Lundberg, I. | Tjärnlund, A. | Bottai, M. | +35

CommentIn: Ann Rheum Dis. 2018 Nov;77(11):e77. - PMID 29170201

4

2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Adult and Juvenile Idiopathic Inflammatory Myopathies and Their Major Subgroups

enthalten in: Arthritis & rheumatology (Hoboken, N.J.) | 2017

von Lundberg, I. | Tjärnlund, A. | Bottai, M. | +35

CommentIn: Nat Rev Rheumatol. 2017 Nov 21;13(12):694. - PMID 29158575

5

EULAR/ACR classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups : a methodology report

enthalten in: RMD open | 2017

von Bottai, M. | Tjärnlund, A. | Santoni, G. | +81

6

2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups

enthalten in: Annals of the rheumatic diseases | 2017

von Lundberg, I. | Tjärnlund, A. | Bottai, M. | +34

7

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

enthalten in: Brain : a journal of neurology | 2016

von Vissing, J. | Barresi, R. | Witting, N. | +11

CommentIn: Brain. 2017 Feb;140(2):e7. - PMID 27818383

8

A heterozygous 21-bp deletion inCAPN3causes dominantly inherited limb girdle muscular dystrophy

enthalten in: Brain | 2016

von Vissing, J. | Barresi, R. | Witting, N. | +11

9

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

enthalten in: Brain | 2016

von Vissing, J. | Barresi, R. | Witting, N. | +11

10

Autoantibodies to cytosolic 5'-nucleotidase 1A in inclusion body myositis

enthalten in: Annals of neurology | 2013

von Pluk, H. | van Hoeve, B. | van Dooren, S. | +11