Works matching IS 13646745 AND DT 2021 AND VI 22 AND IP 1

Results: 12

Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.

Published in:

Neurogenetics, 2021, v. 22, n. 1, p. 33, doi. 10.1007/s10048-020-00632-3

By:

Lornage, Xavière;
Mallaret, Martial;
Silva-Rojas, Roberto;
Biancalana, Valérie;
Giovannini, Diane;
Dieterich, Klaus;
Saker, Safaa;
Deleuze, Jean-François;
Wuyam, Bernard;
Laporte, Jocelyn;
Böhm, Johann

Publication type:

Article

Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.

Published in:

Neurogenetics, 2021, v. 22, n. 1, p. 65, doi. 10.1007/s10048-021-00634-9

By:

Magistrelli, Luca;
Croce, Roberta;
De Marchi, Fabiola;
Basagni, Chiara;
Carecchio, Miryam;
Nasuelli, Nicola;
Cantello, Roberto;
Invernizzi, Federica;
Garavaglia, Barbara;
Comi, Cristoforo;
Mazzini, Letizia;
D'Alfonso, Sandra;
Corrado, Lucia

Publication type:

Article

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.

Published in:

Neurogenetics, 2021, v. 22, n. 1, p. 53, doi. 10.1007/s10048-020-00630-5

By:

Stabley, Deborah L.;
Holbrook, Jennifer;
Scavina, Mena;
Crawford, Thomas O.;
Swoboda, Kathryn J.;
Robbins, Katherine M.;
Butchbach, Matthew E. R.

Publication type:

Article

Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.

Published in:

Neurogenetics, 2021, v. 22, n. 1, p. 11, doi. 10.1007/s10048-020-00626-1

By:

Naruse, Hiroya;
Ishiura, Hiroyuki;
Mitsui, Jun;
Takahashi, Yuji;
Matsukawa, Takashi;
Sakuishi, Kaori;
Nakamagoe, Kiyotaka;
Miyake, Zenshi;
Tamaoka, Akira;
Goto, Jun;
Yoshimura, Jun;
Doi, Koichiro;
Morishita, Shinichi;
Toda, Tatsushi;
Tsuji, Shoji

Publication type:

Article

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.

Published in:

Neurogenetics, 2021, v. 22, n. 1, p. 19, doi. 10.1007/s10048-020-00625-2

By:

Maini, Ilenia;
Errichiello, Edoardo;
Caraffi, Stefano Giuseppe;
Rosato, Simonetta;
Bizzarri, Veronica;
Pollazzon, Marzia;
Trimarchi, Gabriele;
Contrò, Gianluca;
Cavirani, Benedetta;
Gelmini, Chiara;
Napoli, Manuela;
Moratti, Claudio;
Pascarella, Rosario;
Rizzi, Susanna;
Fusco, Carlo;
Zuffardi, Orsetta;
Garavelli, Livia

Publication type:

Article

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.

Published in:

Neurogenetics, 2021, v. 22, n. 1, p. 71, doi. 10.1007/s10048-020-00633-2

By:

Méreaux, Jean-Loup;
Firanescu, Cristina;
Coarelli, Giulia;
Kvarnung, Malin;
Rodrigues, Rita;
Pegoraro, Elena;
Tazir, Meriem;
Taithe, Frédéric;
Valter, Rémi;
Huin, Vincent;
Lidström, Kristina;
Banneau, Guillaume;
Morais, Sara;
Parodi, Livia;
Coutelier, Marie;
Papin, Mélanie;
Svenningsson, Per;
Azulay, Jean-Philippe;
Alonso, Isabel;
Nilsson, Daniel

Publication type:

Article

SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.

Published in:

Neurogenetics, 2021, v. 22, n. 1, p. 95, doi. 10.1007/s10048-020-00631-4

By:

Remiche, Gauthier;
Vandernoot, Isabelle;
Sadeghi-Meibodi, Niloufar;
Desmyter, Laurence

Publication type:

Article

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.

Published in:

Neurogenetics, 2021, v. 22, n. 1, p. 43, doi. 10.1007/s10048-020-00629-y

By:

Bousquet, Idriss;
Bozon, Muriel;
Castellani, Valérie;
Touraine, Renaud;
Piton, Amélie;
Gérard, Bénédicte;
Guibaud, Laurent;
Sanlaville, Damien;
Edery, Patrick;
Saugier-Veber, Pascale;
Putoux, Audrey

Publication type:

Article

Cerebellar dysplasia related to PIK3CA mutation: a three-case series.

Published in:

Neurogenetics, 2021, v. 22, n. 1, p. 27, doi. 10.1007/s10048-020-00628-z

By:

Di Stasi, Martina;
Izzo, Giana;
Cattaneo, Elisa;
Baraldini, Vittoria;
Doneda, Chiara;
Righini, Andrea;
Graziani, Daniela;
Toto, Valentina;
Parazzini, Cecilia

Publication type:

Article

Distal myopathy due to TCAP variants in four unrelated Chinese patients.

Published in:

Neurogenetics, 2021, v. 22, n. 1, p. 1, doi. 10.1007/s10048-020-00623-4

By:

Lv, Xiaoqing;
Gao, Fei;
Dai, Tingjun;
Zhao, Dandan;
Jiang, Wei;
Geng, Hongzhi;
Liu, Fuchen;
Lin, Pengfei;
Yan, Chuanzhu

Publication type:

Article

Familial writer's cramp: a clinical clue for inherited coenzyme Q10 deficiency.

Published in:

Neurogenetics, 2021, v. 22, n. 1, p. 81, doi. 10.1007/s10048-020-00624-3

By:

Amprosi, Matthias;
Zech, Michael;
Steiger, Ruth;
Nachbauer, Wolfgang;
Eigentler, Andreas;
Gizewski, Elke R.;
Guger, Michael;
Indelicato, Elisabetta;
Boesch, Sylvia

Publication type:

Article

De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.

Published in:

Neurogenetics, 2021, v. 22, n. 1, p. 87, doi. 10.1007/s10048-020-00622-5

By:

Scala, Marcello;
Zonneveld-Huijssoon, Evelien;
Brienza, Marianna;
Mecarelli, Oriano;
van der Hout, Annemarie H.;
Zambrelli, Elena;
Turner, Katherine;
Zara, Federico;
Peron, Angela;
Vignoli, Aglaia;
Striano, Pasquale

Publication type:

Article