E-LIB Suche - Ergebnisse für: Dastgir, Jahannaz

1

AT-007 AS POTENTIAL TREATMENT FOR PMM2 CONGENITAL DISORDER ..:

Jalazo, Elizabeth ; Perfetti, Riccardo ; Dastgir, Jahannaz..
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107429 , 2023

Link: https://doi.org/10.1016/..

2

Association of Initial Maximal Motor Ability With Long-term..:

Natera-de Benito, Daniel ; Foley, A. Reghan ; Domínguez-González, Cristina...
Neurology. 96 (2021) 10 - p. , 2021

Link: https://doi.org/10.1212/..

3

A Cross-Sectional Study of Nemaline Myopathy:

Amburgey, Kimberly ; Acker, Meryl ; Saeed, Samia...
Neurology. 96 (2021) 10 - p. , 2021

Link: https://doi.org/10.1212/..

4

Transcriptome analysis of collagen VI‐related muscular dyst..:

Guadagnin, Eleonora ; Mohassel, Payam ; Johnson, Kory R....
Annals of Clinical and Translational Neurology. 8 (2021) 11 - p. 2184-2198 , 2021

Link: https://doi.org/10.1002/..

5

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovari..:

Foley, A. Reghan ; Zou, Yaqun ; Dunford, James E....
Annals of Neurology. 88 (2020) 2 - p. 332-347 , 2020

Link: https://doi.org/10.1002/..

6

Treatment of infantile neuroaxonal dystrophy with RT001: A ..:

Adams, Darius ; Midei, Mark ; Dastgir, Jahannaz...
JIMD Reports. 54 (2020) 1 - p. 54-60 , 2020

Link: https://doi.org/10.1002/..

7

Cardiac MRI identifies valvular and myocardial disease in a..:

Srinivasan, Ranjini ; Yun, Pomi ; Neuhaus, Sarah...
Neuromuscular Disorders. 30 (2020) 9 - p. 742-749 , 2020

Link: https://doi.org/10.1016/..

8

Longitudinal changes in clinical outcome measures in COL6-r..:

Jain, Minal S. ; Meilleur, Katherine ; Kim, Eunhee...
Neurology. 93 (2019) 21 - p. , 2019

Link: https://doi.org/10.1212/..

9

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos s..:

Giunta, Cecilia ; Baumann, Matthias ; Fauth, Christine...
Genetics in Medicine. 20 (2018) 1 - p. 42-54 , 2018

Link: https://doi.org/10.1038/..

10

P4HA1 mutations cause a unique congenital disorder of conne..:

Zou, Yaqun ; Donkervoort, Sandra ; Salo, Antti M....
Human Molecular Genetics. 26 (2017) 12 - p. 2207-2217 , 2017

Link: https://doi.org/10.1093/..

11

Electrical impedance myography in individuals with collagen..:

Nichols, Carmel ; Jain, Minal S. ; Meilleur, Katherine G....
Muscle & Nerve. 57 (2017) 1 - p. 54-60 , 2017

Link: https://doi.org/10.1002/..

12

Comparison of sitting and supine forced vital capacity in c..:

Meilleur, Katherine G. ; Linton, Melody M. ; Fontana, Joseph...
Pediatric Pulmonology. 52 (2017) 4 - p. 524-532 , 2017

Link: https://doi.org/10.1002/..

13

Common and variable clinical, histological, and imaging fin..:

Abath Neto, Osorio ; Moreno, Cristiane de Araújo Martins ; Malfatti, Edoardo...
Neuromuscular Disorders. 27 (2017) 11 - p. 975-985 , 2017

Link: https://doi.org/10.1016/..

14

Upper extremity outcome measures for collagen VI-related my..:

Bendixen, Roxanna M. ; Butrum, Jocelyn ; Jain, Mina S....
Neuromuscular Disorders. 27 (2017) 3 - p. 278-285 , 2017

Link: https://doi.org/10.1016/..

15

Imaging findings in a child with calcineurin inhibitor-indu..:

Ayyala, Rama S. ; Arnold, Staci D. ; Bhatia, Monica.
Pediatric Radiology. 46 (2016) 11 - p. 1618-1621 , 2016

Link: https://doi.org/10.1007/..