Neurogenetics

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Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
Neurogenetics - - 2019
Sofía Sánchez-Iglesias, Melissa Crocker, Mar O’Callaghan, Alejandra Darling, Angels García-Cazorla, Rosario Domingo-Jiménez, Ana Castro, Antía Fernández-Pombo, Álvaro Ruibal, Pablo Aguiar, Miguel Garrido-Pumar, Antonio Rodríguez-Núñez, Julián Álvarez-Escudero, Rebecca J. Brown, David Araújo-Vilar
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene
Neurogenetics - Tập 15 - Trang 107-113 - 2014
Lubov Blumkin, Ayelet Halevy, Dominique Ben-Ami-Raichman, Dvir Dahari, Ami Haviv, Cohen Sarit, Dorit Lev, Marjo S. van der Knaap, Tally Lerman-Sagie, Esther Leshinsky-Silver
Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions
Neurogenetics - Tập 18 - Trang 207-218 - 2017
Jovan Pešović, S. Perić, M. Brkušanin, G. Brajušković, V. Rakočević-Stojanović, Dušanka Savić-Pavićević
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts
Neurogenetics - Tập 9 - Trang 25-31 - 2007
Christina L. Liquori, Silvana Penco, Judith Gault, Tracey P. Leedom, Laura Tassi, Teresa Esposito, Issam A. Awad, Luigi Frati, Eric W. Johnson, Ferdinando Squitieri, Douglas A. Marchuk, Fernando Gianfrancesco
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity
Neurogenetics - Tập 24 - Trang 311-316 - 2023
Tahereh Ghorashi, Hossein Darvish, Somayeh Bakhtiari, Abbas Tafakhori, Michael C. Kruer, Hossein Mozdarani
Mutations in ARID2 are associated with intellectual disabilities
Neurogenetics - Tập 16 Số 4 - Trang 307-314 - 2015
Linshan Shang, Megan T. Cho, Kyle Retterer, Leandra Folk, Jennifer Humberson, Luis Rohena, Alpa Sidhu, Sheila Saliganan, Alejandro Iglesias, Patrik Vitazka, Jane Juusola, Anne O’Donnell‐Luria, Yufeng Shen, Wendy K. Chung
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene
Neurogenetics - Tập 18 - Trang 135-139 - 2017
Maher Awni Shahrour, Motee Ashhab, Simon Edvardson, Michal Gur, Bassam Abu-Libdeh, Orly Elpeleg
The human small conductance calcium-regulated potassium channel gene (hSKCa3) contains two CAG repeats in exon 1, is on chromosome 1q21.3, and shows a possible association with schizophrenia
Neurogenetics - Tập 1 - Trang 259-265 - 1998
Oliver Wittekindt, Anna Jauch, Edgar Burgert, Lars Schärer, Heidi Holtgreve-Grez, Gael Yvert, Georges Imbert, Jürgen Zimmer, Margret R. Hoehe, Jean-Paul Macher, Pierre Chiaroni, Dietrich van Calker, Marc-Antoine Crocq, D. J. Morris-Rosendahl
Correction to: New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics
Neurogenetics - - Trang 1-1 - 2024
Geraldine Zimmer-Bensch
Analysis of exon dosage using MLPA in South African Parkinson's disease patients
Neurogenetics - Tập 11 - Trang 305-312 - 2009
Rowena J. Keyser, Debbie Lombard, Rene Veikondis, Jonathan Carr, Soraya Bardien
Tổng số: 622   
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