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/vufind/Search/Results?lookfor=%22Ortigoza-Escobar%2C+Juan+Dario%22&type=Person&sort=year
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PubPharm (67)
1
Atypical Mowat-Wilson Syndrome : Dystonia, Choreoathetosis and Cognitive Features
enthalten in:
Movement disorders clinical practice
| 2024
von
Nou-Fontanet, L.
|
Martí-Sánchez, L.
|
Martorell, L.
| +2
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2
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Kaiyrzhanov, R.
|
Ortigoza-Escobar, J.
|
Stringer, B.
| +27
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3
Emergence of lingual dystonia and strabismus in early-onset SCN8A self-limiting familial infantile epilepsy
enthalten in:
Epileptic disorders : international epilepsy journal with videotape
| 2024
von
Ancora, C.
|
Ortigoza-Escobar, J.
|
Valletti, M.
| +4
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4
A new blood DNA methylation signature for Koolen-de Vries syndrome : Classification of missense KANSL1 variants and comparison to fibroblast cells
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Awamleh, Z.
|
Choufani, S.
|
Wu, W.
| +14
ErratumIn: Eur J Hum Genet. 2024 Feb 15;:. - PMID 38355964
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5
Correction : A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Awamleh, Z.
|
Choufani, S.
|
Wu, W.
| +14
ErratumFor: Eur J Hum Genet. 2024 Mar;32(3):324-332. - PMID 38282074
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6
Child-to-adult transition : a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)
enthalten in:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
| 2024
von
Nanetti, L.
|
Kearney, M.
|
Boesch, S.
| +50
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7
A Novel AIFM1-Related Disorder Phenotype Treated with Deep Brain Stimulation
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Pijuan, J.
|
Sevrioukova, I.
|
García-Campos, .
| +10
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8
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
enthalten in:
EBioMedicine
| 2023
von
Lyu, H.
|
Boßelmann, C.
|
Johannesen, K.
| +20
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9
Broadening the clinical spectrum : molecular mechanisms and new phenotypes of ANO3-dystonia
enthalten in:
Brain : a journal of neurology
| 2023
von
Ousingsawat, J.
|
Talbi, K.
|
Gómez-Martín, H.
| +7
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10
Systematic review of drug therapy for chorea in NXK2-1-related disorders : Efficacy and safety evidence from case studies and series
enthalten in:
European journal of neurology
| 2023
von
Nou-Fontanet, L.
|
Martín-Gómez, C.
|
Isabel-Gómez, R.
| +6
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Movement disorders clinical practice
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Thema
37
Journal Article
15
Research Support, Non-U.S. Gov't
10
Review
8
Case Reports
6
Leigh syndrome
5
Letter
5
Membrane Transport Proteins
5
Thiamine
4
SLC19A3 protein, human
4
chorea
4
movement disorders
3
Biomarkers
3
Dystonia
3
Multicenter Study
3
X66NSO3N35
3
ataxia
3
case report
3
diagnosis
3
dystonia
2
ATPases Associated with Diverse Cellular Activi...
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Erscheinungszeitraum
48
2020-
19
2010-2019
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Sprache
57
Englisch
1
Spanisch
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