Suchergebnisse - "Lek, Angela"

PubPharm (24)

1

COMPOSITIONS AND METHODS FOR ENHANCING CELL TRANSPLANTATION EFFICACY

enthalten in: Europäisches Patentamt | 2019

von LEK ANGELA | KUNKEL LOUIS M | SPINAZZOLA JANELLE M | +1

2

Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis

enthalten in: Human molecular genetics | 2019

von Pakula, A. | Lek, A. | Widrick, J. | +11

3

A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies

enthalten in: JCI insight | 2018

von Serafini, P. | Feyder, M. | Hightower, R. | +10

4

Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P

enthalten in: The Journal of biological chemistry | 2017

von Woolger, N. | Bournazos, A. | Sophocleous, R. | +5

5

Facioscapulohumeral Muscular Dystrophy

enthalten in: Comprehensive Physiology | 2017

von DeSimone, A. | Pakula, A. | Lek, A. | +1

6

Corrigendum : SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

enthalten in: Nature genetics | 2017

von Shaw, N. | Brand, H. | Kupchinsky, Z. | +75

ErratumFor: Nat Genet. 2017 Feb;49(2):238-248. - PMID 28067909

7

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

enthalten in: Nature genetics | 2017

von Shaw, N. | Brand, H. | Kupchinsky, Z. | +75

ErratumIn: Nat Genet. 2017 May 26;49(6):969. - PMID 28546579

8

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

enthalten in: Nature genetics | 2017

von Shaw, N. | Brand, H. | Kupchinsky, Z. | +75

9

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

enthalten in: Nature genetics | 2017

von Shaw, N. | Brand, H. | Kupchinsky, Z. | +75

10

Emerging preclinical animal models for FSHD

enthalten in: Trends in molecular medicine | 2015

von Lek, A. | Rahimov, F. | Jones, P. | +1