Centre de documentació: resultats de cerca

Article
SLC9A6-Linked Parkinson Syndrome in Female Heterozygotes Is Associated With PET-Detectable Tau Pathology.
Autor/s:
Yamamoto Y, Takahata K, Seki M, Okusa S, Tatebe H, Ueda R, Endo H, Tagai K, Moriguchi S, Kurose S, Ichihashi M, Matsuura S, Kawamura K, Zhang MR, Ueno Y, Takiyama Y, Tokuda T, Higuchi M, Ito D.
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200235
Article
Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy: A Systematic Review.
Autor/s:
Zhan Y, Chen S, Jin Z, Zhou J, Zhang YX, Hou Q, Wang Y, Zheng G, Zheng Y.
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200240
Severe Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of SCN4A and CLCN1 Variants: A Case Report.
Autor/s:
Tugizova M, Margeta M, Richie M, Pet D, Rosow L, Terrelonge M, Ralph JW.
Clinical/Scientific Notes
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200223
Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of Literature.
Autor/s:
Ghayal NB, Roemer SF, Tipton PW, Jiang P, Selner EM, Peck DS, Murakami A, Oglesbee D, Graff-Radford NR,
Clinical/Scientific Notes
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200227
Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia
Autor/s:
Eshaghi K, Rao PH, Shen MM, Lynch DR
Clinical/Scientific Notes
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200234
Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder.
Autor/s:
Verrecchia L, Alm V, Thonberg H, Lenner F, Paivandy A, Feuk L, Lindstrand A, Nilsson D, Paucar M.
Clinical/Scientific Notes
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200238
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant.
Autor/s:
Vancura J, Banerjee AK, Boyd NK, Kazerooni L, Nishimori NA, Ferris R, Vogel BN, Nguyen L, Santoro JD.
Clinical/Scientific Notes
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200239
Llibre
Documento de consenso sobre disfunción eréctil.
Actualizado en 2013
Autor/s:
A Puigvert Martínez, JM Pomerol Monseny, A Martín Morales (eds.)
Elaborado por 12 entidades científicas.
Any publicació:
2013
Llibre
Riñon y embarazo. 15º Curso de Nefrología para post-graduados
Autor/s:
Organizado por G del Río, dirigido por F. Solé-Balcells y coordinado por P Barceló, Barcelona del 3 al 5 de noviembre de 1984
Llibre
Compendio de la vejiga neurógena traumática
Autor/s:
J Salinas Casado, M Esteban Fuertes (eds.)
Any publicació:
2010

Una iniciativa de:

Cercador

SLC9A6-Linked Parkinson Syndrome in Female Heterozygotes Is Associated With PET-Detectable Tau Pathology.

Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy: A Systematic Review.

Severe Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of SCN4A and CLCN1 Variants: A Case Report.

Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of Literature.

Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia

Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder.

Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant.

Documento de consenso sobre disfunción eréctil.

Riñon y embarazo. 15º Curso de Nefrología para post-graduados

Compendio de la vejiga neurógena traumática

Trobes a faltar informació? Fes-nos arribar els teus suggeriments!