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Neurogenetics|January 12, 2023
Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMTSeyedeh Atiyeh Afjei, Mohammad Farid Mohammadi, Elham Pourbakhtyaran, et al.
Neurogenetics|December 29, 2022
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from IndiaSaraswati Nashi, Kiran Polavarapu, Mainak Bardhan, et al.
Neurogenetics|July 12, 2022
Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulationMarwa Maalej, Lamia Sfaihi, Marwa Ammar, et al.
Neurogenetics|August 4, 2010
OCT1 polymorphism is associated with response and survival time in anti-Parkinsonian drug usersMatthijs L Becker, Loes E Visser, Ron H N van Schaik, et al.
Neurogenetics|February 3, 2011
C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar developmentSabine Endele, Claudia Nelkenbrecher, Annegret Bördlein, et al.
Neurogenetics|August 20, 2010
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22Eliane Chouery, Valérie Delague, Nadine Jalkh, et al.
Neurogenetics|January 4, 2011
Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangementByung-Ok Choi, Nam Keun Kim, Sun Wha Park, et al.
Neurogenetics|May 7, 2011
Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC)Ulrich Müller
Neurogenetics|April 6, 2011
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patientsBarbara Castellotti, Caterina Mariotti, Marco Rimoldi, et al.
Neurogenetics|December 31, 2013
Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican familiesLizbeth E García-Velázquez, Samuel Canizales-Quinteros, Sandra Romero-Hidalgo, et al.
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