Works matching IS 13646745 AND DT 2021 AND VI 22 AND IP 4

Results: 15

NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 333, doi. 10.1007/s10048-021-00668-z

By:

Echaniz-Laguna, Andoni;
Altuzarra, Cecilia;
Verloes, Alain;
De La Banda, Marta Gomez Garcia;
Quijano-Roy, Susana;
Tudorache, Raluca Anca;
Jaxybayeva, Altynshash;
Myrzaliyeva, Bakhytkul;
Tazir, Meriem;
Vallat, Jean-Michel;
Francou, Bruno;
Urtizberea, Jon Andoni

Publication type:

Article

Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 347, doi. 10.1007/s10048-021-00667-0

By:

Cavestro, Chiara;
Panteghini, Celeste;
Reale, Chiara;
Nasca, Alessia;
Fenu, Silvia;
Salsano, Ettore;
Chiapparini, Luisa;
Garavaglia, Barbara;
Pareyson, Davide;
Di Meo, Ivano;
Tiranti, Valeria

Publication type:

Article

Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 287, doi. 10.1007/s10048-021-00665-2

By:

Abdel-Hamid, Mohamed S.;
Sabry, Sahar;
Abdel-Ghafar, Sherif F.;
El-Dessouky, Sara H.;
Abdel-Salam, Ghada M. H.

Publication type:

Article

Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 313, doi. 10.1007/s10048-021-00664-3

By:

Trakadis, Y.;
Accogli, A.;
Qi, B.;
Bloom, D.;
Joober, R.;
Levy, E.;
Tabbane, K.

Publication type:

Article

Spinocerebellar ataxias (SCAs) caused by common mutations.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 235, doi. 10.1007/s10048-021-00662-5

By:

Müller, Ulrich

Publication type:

Article

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 343, doi. 10.1007/s10048-021-00660-7

By:

Quesada-Espinosa, Juan F.;
Garzón-Lorenzo, Lucía;
Lezana-Rosales, José M.;
Gómez-Rodríguez, María J.;
Sánchez-Calvin, María T.;
Palma-Milla, Carmen;
Gómez-Manjón, Irene;
Hidalgo-Mayoral, Irene;
Pérez de la Fuente, Rubén;
Arteche-López, Ana;
Álvarez-Mora, María I.;
Camacho-Salas, Ana;
Cruz-Rojo, Jaime;
Lázaro-Rodríguez, Irene;
Morales-Conejo, Montserrat;
Nuñez-Enamorado, Noemí;
Bustamante-Aragones, Ana;
Simón de las Heras, Rogelio;
Gomez-Cano, María A.;
Ramos-Gómez, Patricia

Publication type:

Article

Increased unfolded protein responses caused by MED17 mutations.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 353, doi. 10.1007/s10048-021-00661-6

By:

Terabayashi, Takeshi;
Hashimoto, Satoru

Publication type:

Article

Milestones in genetics of cerebellar ataxias.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 225, doi. 10.1007/s10048-021-00656-3

By:

Krygier, Magdalena;
Mazurkiewicz-Bełdzińska, Maria

Publication type:

Article

A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 271, doi. 10.1007/s10048-021-00658-1

By:

Polavarapu, Kiran;
Mathur, Aradhna;
Joshi, Aditi;
Nashi, Saraswati;
Preethish-Kumar, Veeramani;
Bardhan, Mainak;
Sharma, Pooja;
Parveen, Shaista;
Seth, Malika;
Vengalil, Seena;
Chawla, Tanushree;
Shingavi, Leena;
Shamim, Uzma;
Nayak, Sushmita;
Vivekanand, A.;
Töpf, Ana;
Roos, Andreas;
Horvath, Rita;
Lochmüller, Hanns;
Nandeesh, Bevinahalli

Publication type:

Article

Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 297, doi. 10.1007/s10048-021-00657-2

By:

Maletzko, Antonia;
Key, Jana;
Wittig, Ilka;
Gispert, Suzana;
Koepf, Gabriele;
Canet-Pons, Júlia;
Torres-Odio, Sylvia;
West, A. Phillip;
Auburger, Georg

Publication type:

Article

Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 359, doi. 10.1007/s10048-021-00659-0

By:

Štěrbová, K.;
Vlčková, M.;
Hansíková, H.;
Sebroňová, V.;
Sedláčková, L.;
Pavlíček, P.;
Laššuthová, Petra

Publication type:

Article

Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 323, doi. 10.1007/s10048-021-00649-2

By:

Yang, Sai;
Wu, Liwen;
Liao, Hongmei;
Lu, Xiulan;
Zhang, Xiao;
Kuang, Xiaojun;
Yang, Liming

Publication type:

Article

Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families.

Published in:

2021

By:

Courtin, Thomas;
Tesson, Christelle;
Corvol, Jean-Christophe;
Lesage, Suzanne;
Brice, Alexis

Publication type:

Letter

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 263, doi. 10.1007/s10048-021-00655-4

By:

Kloth, Katja;
Lozic, Bernarda;
Tagoe, Julia;
Hoffer, Mariëtte J. V.;
Van der Ven, Amelie;
Thiele, Holger;
Altmüller, Janine;
Kubisch, Christian;
Au, Ping Yee Billie;
Denecke, Jonas;
Bijlsma, Emilia K.;
Lessel, Davor

Publication type:

Article

Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 251, doi. 10.1007/s10048-021-00652-7

By:

van Karnebeek, Clara D.;
Blydt-Hansen, Ingrid;
Matthews, Allison M.;
Avramovic, Vladimir;
Price, Magda;
Drogemoller, Britt;
Shyr, Casper;
Lee, Jessica;
Mwenifumbo, Jill;
Ghani, Aisha;
Stockler, Sylvia;
Friedman, Jan M.;
Lehman, Anna;
Ross, Colin J.;
Wasserman, Wyeth W.;
Tarailo-Graovac, Maja;
Horvath, Gabriella A.

Publication type:

Article