Weiter zum Inhalt
Toggle navigation
English
English
Favoritenliste (
0
)
(Voll)
Kontakt
Mein Konto
Abmeldung
Mein Konto
Suche
Erweiterte Suche
Suchverlauf
Struktursuche
Narrative Service
Drug Overviews
Info Guide
/vufind/Search/Results?lookfor=%22Kuntz%2C+Nancy%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Kuntz%2C+Nancy%22&type=Person&sort=year
Search /vufind/Search2/Results?lookfor=%22Kuntz%2C+Nancy%22&type=Person&sort=year
PubPharm (155)
1
A case report of riboflavin transporter deficiency : A novel heterozygous pathogenic variant in the SLC52A3 gene
enthalten in:
Molecular genetics and metabolism reports
| 2024
von
Tranel, E.
|
McGowan, B.
|
Drackley, A.
| +4
Wird geladen...
2
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy : A Randomized Controlled Trial
enthalten in:
Neurology
| 2024
von
Dang, U.
|
Damsker, J.
|
Guglieri, M.
| +41
Wird geladen...
3
Use of the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND) in Spinal Muscular Atrophy
enthalten in:
Journal of clinical medicine
| 2024
von
Brown, L.
|
Hoffman, K.
|
Corbo-Galli, C.
| +10
Wird geladen...
4
Findings from the Longitudinal CINRG Becker Natural History Study
enthalten in:
Journal of neuromuscular diseases
| 2024
von
Clemens, P.
|
Gordish-Dressman, H.
|
Niizawa, G.
| +17
Wird geladen...
5
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy : results from a substudy of the ASPIRO open-label clinical trial
enthalten in:
EBioMedicine
| 2024
von
Lawlor, M.
|
Schoser, B.
|
Margeta, M.
| +36
Wird geladen...
6
The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report
enthalten in:
Journal of neuromuscular diseases
| 2024
von
Armstrong, N.
|
Apkon, S.
|
Berggren, K.
| +11
Wird geladen...
7
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2024
von
Drackley, A.
|
De Simone, L.
|
Kuntz, N.
| +5
Wird geladen...
8
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Drackley, A.
|
De Simone, L.
|
Kuntz, N.
| +5
Wird geladen...
9
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO) : a multinational, open-label, dose-escalation trial
enthalten in:
The Lancet. Neurology
| 2023
von
Shieh, P.
|
Kuntz, N.
|
Dowling, J.
| +30
CommentIn: Lancet Neurol. 2023 Dec;22(12):1089-1091. - PMID 37977700
Wird geladen...
10
Axonal polyneuropathy and ataxia in children : consider Perrault Syndrome, a case report
enthalten in:
BMC medical genomics
| 2023
von
Munson, H.
|
De Simone, L.
|
Schwaede, A.
| +5
Wird geladen...
1
2
3
4
5
6
7
8
9
10
11
Nächster »
[16]
Filter & Sortierung
Treffer pro Seite
10
20
50
Sortieren
Relevanz
Neueste zuerst
Älteste zuerst
Verfasser
Zeitschriftentitel
Bibliothek
Standort (Printmedien)
Verwandte Substanzen
Verwandte Substanzen werden ermittelt...
Verwandte Erkrankungen/Symptome
Verwandte Erkrankungen/Symptome werden ermittelt...
Verwandte Gene
Verwandte Gene werden ermittelt...
Systematic Reviews
Clinical Studies
Patente
Covid-19/SARS-CoV-2
Exclude Systematic Reviews
Exclude Clinical Studies
Exclude Patents
Medienart
155
Aufsätze
123
E-Artikel
123
E-Ressourcen
32
Gedruckte Aufsätze
Zeitschriftentitel
13
Muscle & nerve
10
Neurology
7
Journal of neuromuscular diseases
6
Journal of child neurology
6
Neuromuscular disorders : NMD
6
Pediatric neurology
5
Muscle & Nerve
4
Acta neuropathologica
4
CNS drugs
4
Neurotherapeutics
4
Pediatric neurology briefs
3
BMC neurology
3
Current neurology and neuroscience reports
3
Current paediatrics
3
Trials
2
Acta Neuropathologica Communications
2
American journal of human genetics
2
Annals of clinical and translational neurology
2
Annals of neurology
2
Archives of neurology
Alle anzeigen ...
weniger ...
Thema
90
Journal Article
41
Research Support, Non-U.S. Gov't
26
Research Support, N.I.H., Extramural
19
Multicenter Study
13
Case Reports
13
Glucocorticoids
10
Randomized Controlled Trial
9
Duchenne muscular dystrophy
9
Oligonucleotides
9
Research Support, U.S. Gov't, Non-P.H.S.
9
Review
8
5Z9SP3X666
8
nusinersen
7
Biomarkers
7
Prednisone
7
Survival of Motor Neuron 2 Protein
7
VB0R961HZT
6
Immunosuppressive Agents
5
Clinical Trial, Phase II
5
Diagnosis
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
154
2000-
1
1900-1999
Erscheinungsjahr(e)
Von:
Bis:
Sprache
125
Englisch
Haven't found what you're looking for?
Wird geladen...
