Works matching IS 13646745 AND DT 2023 AND VI 24 AND IP 4

Results: 11

Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.

Published in:

Neurogenetics, 2023, v. 24, n. 4, p. 243, doi. 10.1007/s10048-023-00726-8

By:

Zhu, Zeyu;
Hou, Wenzhe;
Cao, Yuwen;
Zheng, Haoran;
Tian, Wotu;
Cao, Li

Publication type:

Article

A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity.

Published in:

Neurogenetics, 2023, v. 24, n. 4, p. 311, doi. 10.1007/s10048-023-00734-8

By:

Ghorashi, Tahereh;
Darvish, Hossein;
Bakhtiari, Somayeh;
Tafakhori, Abbas;
Kruer, Michael C.;
Mozdarani, Hossein

Publication type:

Article

Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders.

Published in:

Neurogenetics, 2023, v. 24, n. 4, p. 231, doi. 10.1007/s10048-023-00725-9

By:

Si, Lianghao;
Wang, Zhanjun;
Li, Xu-Ying;
Song, Yang;
Yao, Tingyan;
Xu, Erhe;
Wang, Xianling;
Wang, Chaodong

Publication type:

Article

Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.

Published in:

2023

By:

Ashrafi, Mahmoudreza;
Kameli, Reyhaneh;
Hosseinpour, Sareh;
Razmara, Ehsan;
Zamani, Zahra;
Rezaei, Zahra;
Mashayekhi, Raziyeh;
Pak, Neda;
Barzegar, Mohammad;
Azizimalamiri, Reza;
Kashani, Morteza Rezvani;
Khosroshahi, Nahideh;
Rasulinezhad, Maryam;
Heidari, Morteza;
Amanat, Man;
Abdi, Alireza;
Mohammadi, Bahram;
Mohammadi, Mahmoud;
Zamani, Gholam Reza;
Badv, Reza Shervin

Publication type:

Correction Notice

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.

Published in:

Neurogenetics, 2023, v. 24, n. 4, p. 291, doi. 10.1007/s10048-023-00729-5

By:

Palu, Edouard;
Järvilehto, Julius;
Pennonen, Jana;
Huber, Nadine;
Herukka, Sanna-Kaisa;
Haapasalo, Annakaisa;
Isohanni, Pirjo;
Tyynismaa, Henna;
Auranen, Mari;
Ylikallio, Emil

Publication type:

Article

Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families.

Published in:

Neurogenetics, 2023, v. 24, n. 4, p. 221, doi. 10.1007/s10048-023-00724-w

By:

Skoczylas, S.;
Jakiel, P.;
Płoszaj, T.;
Gadzalska, K.;
Borowiec, M.;
Pastorczak, A.;
Moczulska, H.;
Malarska, M.;
Eckersdorf-Mastalerz, A.;
Budzyńska, E.;
Zmysłowska, A.

Publication type:

Article

Adult-onset Alexander disease among patients of Jewish Syrian descent.

Published in:

Neurogenetics, 2023, v. 24, n. 4, p. 303, doi. 10.1007/s10048-023-00732-w

By:

Anis, Saar;
Fay-Karmon, Tsvia;
Lassman, Simon;
Shbat, Fadi;
Lesman-Segev, Orit;
Mor, Nofar;
Barel, Ortal;
Dominissini, Dan;
Chorin, Odelia;
Pras, Elon;
Greenbaum, Lior;
Hassin-Baer, Sharon

Publication type:

Article

Clinical and functional study of two de novo variations of CDKL5 gene.

Published in:

Neurogenetics, 2023, v. 24, n. 4, p. 263, doi. 10.1007/s10048-023-00731-x

By:

You, Yang;
Men, Xinyi;
Wu, Wenjuan;
Liu, Shan;
He, Xuexin;
Sun, Suzhen;
Wang, Xiuxia;
Li, Baoguang

Publication type:

Article

High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.

Published in:

Neurogenetics, 2023, v. 24, n. 4, p. 279, doi. 10.1007/s10048-023-00730-y

By:

Ashrafi, Mahmoudreza;
Kameli, Reyhaneh;
Hosseinpour, Sareh;
Razmara, Ehsan;
Zamani, Zahra;
Rezaei, Zahra;
Mashayekhi, Raziyeh;
Pak, Neda;
Barzegar, Mohammad;
Azizimalamiri, Reza;
Kashani, Morteza Rezvani;
Khosroshahi, Nahideh;
Rasulinezhad, Maryam;
Heidari, Morteza;
Amanat, Man;
Abdi, Alireza;
Mohammadi, Bahram;
Mohammadi, Mahmoud;
Zamani, Gholam Reza;
Badv, Reza Shervin

Publication type:

Article

Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.

Published in:

Neurogenetics, 2023, v. 24, n. 4, p. 273, doi. 10.1007/s10048-023-00728-6

By:

Tomforde, Maike;
Steinbach, Meike;
Haack, Tobias B.;
Kuhlenbäumer, Gregor

Publication type:

Article

A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.

Published in:

Neurogenetics, 2023, v. 24, n. 4, p. 251, doi. 10.1007/s10048-023-00727-7

By:

Li, Nana;
Kang, Hong;
Zou, Yanna;
Liu, Zhen;
Deng, Ying;
Wang, Meixian;
Li, Lu;
Qin, Hong;
Qiu, Xiaoqiong;
Wang, Yanping;
Zhu, Jun;
Agostino, Mark;
Heng, Julian I-T;
Yu, Ping

Publication type:

Article