Works matching IS 13646745 AND DT 2022 AND VI 23 AND IP 2

Results: 8

Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.

Published in:

Neurogenetics, 2022, v. 23, n. 2, p. 151, doi. 10.1007/s10048-022-00683-8

By:

Macintosh, Julia;
Derksen, Alexa;
Poulin, Chantal;
Braverman, Nancy;
Vanderver, Adeline;
Thiffault, Isabelle;
Albrecht, Steffen;
Bernard, Geneviève

Publication type:

Article

Experiences in the molecular genetic and histopathological evaluation of calpainopathies.

Published in:

Neurogenetics, 2022, v. 23, n. 2, p. 103, doi. 10.1007/s10048-022-00687-4

By:

Ozyilmaz, Berk;
Kirbiyik, Ozgur;
Ozdemir, Taha R.;
Ozer, Ozge Kaya;
Kutbay, Yasar B.;
Erdogan, Kadri M.;
Guvenc, Merve Saka;
Arıkan, Şener;
Turk, Tuba Sozen;
Kale, Murat Yıldırım;
Uludag, Irem Fatma;
Baydan, Figen;
Sertpoyraz, Filiz;
Gencpinar, Pinar;
Diniz, Gulden

Publication type:

Article

Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.

Published in:

Neurogenetics, 2022, v. 23, n. 2, p. 115, doi. 10.1007/s10048-022-00684-7

By:

Cheung, Anthony;
Argyriou, Catherine;
Yergeau, Christine;
D'Souza, Yasmin;
Riou, Émilie;
Lévesque, Sébastien;
Raymond, Gerald;
Daba, Mebratu;
Rtskhiladze, Irakli;
Tkemaladze, Tinatin;
Adang, Laura;
La Piana, Roberta;
Bernard, Geneviève;
Braverman, Nancy

Publication type:

Article

Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort.

Published in:

Neurogenetics, 2022, v. 23, n. 2, p. 137, doi. 10.1007/s10048-022-00689-2

By:

Nassir, Nasna;
Sati, Isra;
Al Shaibani, Shaiban;
Ahmed, Awab;
Almidani, Omar;
Akter, Hosneara;
Woodbury-Smith, Marc;
Tayoun, Ahmad Abou;
Uddin, Mohammed;
Albanna, Ammar

Publication type:

Article

An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation.

Published in:

Neurogenetics, 2022, v. 23, n. 2, p. 129, doi. 10.1007/s10048-022-00686-5

By:

Miyamoto, Sachiko;
Nakashima, Mitsuko;
Fukumura, Shinobu;
Kumada, Satoko;
Saitsu, Hirotomo

Publication type:

Article

A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature.

Published in:

Neurogenetics, 2022, v. 23, n. 2, p. 85, doi. 10.1007/s10048-022-00685-6

By:

Chouery, Eliane;
Mehawej, Cybel;
Megarbane, Andre

Publication type:

Article

A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.

Published in:

Neurogenetics, 2022, v. 23, n. 2, p. 157, doi. 10.1007/s10048-021-00682-1

By:

Iacono, Salvatore;
Del Giudice, Elda;
Leon, Alberta;
La Bella, Vincenzo;
Spataro, Rossella

Publication type:

Article

Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.

Published in:

Neurogenetics, 2022, v. 23, n. 2, p. 91, doi. 10.1007/s10048-021-00680-3

By:

Thust, Steffi;
Veneziano, Liana;
Parkinson, Michael H.;
Bhatia, Kailash P.;
Mantuano, Elide;
Gonzalez-Robles, Cristina;
Davagnanam, Indran;
Giunti, Paola

Publication type:

Article