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Year | Number of Results |
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2018 | 2 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
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Page 1
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Int J Mol Sci. 2022 Oct 6;23(19):11847. doi: 10.3390/ijms231911847.
Int J Mol Sci. 2022.
PMID: 36233161
Free PMC article.
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.
Stanescu S, Correcher Medina P, Del Castillo FJ, Alonso Luengo O, Arto Millan LM, Belanger Quintana A, Camprodon Gomez M, Diez Langhetée L, Garcia Campos O, Matas Garcia A, Perez-Moreno J, Rubio Gribble B, Visa-Reñé N, Giraldo-Castellano P, O'Callaghan Gordo M.
Stanescu S, et al. Among authors: o callaghan gordo m.
Biomedicines. 2023 Oct 22;11(10):2861. doi: 10.3390/biomedicines11102861.
Biomedicines. 2023.
PMID: 37893235
Free PMC article.
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Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.
Cortès-Saladelafont E, Molero-Luis M, Cuadras D, Casado M, Armstrong-Morón J, Yubero D, Montoya J, Artuch R, García-Cazorla À; Institut De Recerca Sant Joan De Déu Working Group.
Cortès-Saladelafont E, et al.
Dev Med Child Neurol. 2018 Aug;60(8):780-792. doi: 10.1111/dmcn.13746. Epub 2018 Mar 25.
Dev Med Child Neurol. 2018.
PMID: 29577258
Free article.
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Encephalopathies with intracranial calcification in children: clinical and genetic characterization.
Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol J, Garcia-Cazorla A, Perez Duenas B; Cerebral Calcification International Study Group; Chiapparini L, Garavaglia B, Orcesi S.
Tonduti D, et al.
Orphanet J Rare Dis. 2018 Aug 16;13(1):135. doi: 10.1186/s13023-018-0854-y.
Orphanet J Rare Dis. 2018.
PMID: 30111349
Free PMC article.
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