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neurogenetics
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1. Nervous NDRGs: the N-myc downstream–regulated gene family in the central and peripheral nervous system
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Tác giả
Simone L. Schonkeren, Maartje Massen, Raisa van der Horst, Alexander Koch.
1. Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family
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Tác giả
Shelisa Tey, Nortina Shahrizaila, Alexander P. Drew, Sarimah Samulong.
1. Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era
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Tác giả
Stefania Zampatti, Luca Colantoni, Claudia Strafella, Rosaria Maria Galota.
1. Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy
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Tác giả
Ines Kapferer-Seebacher, Quinten Waisfisz, Sylvia Boesch, Marieke Bronk.
2. VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis
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Tác giả
Moran Hausman-Kedem, Shay Ben-Shachar, Shay Menascu, Karen Geva.
2. A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity
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Tác giả
David B. Beck, T. Subramanian, S. Vijayalingam, Uthayashankar R. Ezekiel.
2. Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations
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Tác giả
Hiroya Naruse, Takashi Matsukawa, Hiroyuki Ishiura, Jun Mitsui.
2. Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome
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Tác giả
Nurun Nahar Borna, Yoshihito Kishita, Masakazu Kohda, Sze Chern Lim.
3. Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients
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Tác giả
Priyam Narain, Aditya K. Padhi, Upma Dave, Dibyakanti Mishra, Rohit Bhatia.
3. 9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression
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Tác giả
Maria Teresa Bonati, Chiara Castronovo, Alessandra Sironi.
3. Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
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Tác giả
Sofía Sánchez-Iglesias, Melissa Crocker, Mar O’Callaghan.
3. Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes
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Tác giả
Ewelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa.
4. Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features
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Tác giả
Bassam Abu-Libdeh, Motee Ashhab, Maher Shahrour, Muhannad Daana.
4. A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus
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Tác giả
Miaomiao Wang, Xinqing Zhang.
4. Rs10230207 genotype confers changes in HDAC9 and TWIST1, but not FERD3L in lymphoblasts from patients with intracranial aneurysm
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Tác giả
Theresa A. Lansdell, Courtney Fisher, Kent Simmonds, Mat J. Reeves.
4. Sudden unexpected death with rare compound heterozygous variants in PRICKLE1
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Tác giả
Yukiko Hata, Koji Yoshida, Naoki Nishida.
5. Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson’s disease
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Tác giả
Nicola du Toit, Riaan van Coller, David G. Anderson, Jonathan Carr.
5. Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12
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Tác giả
Jessica Rossi, Francesco Cavallieri, Giada Giovannini, Carla Budriesi.
5. Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
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Tác giả
Edmund S. Cauley, Ahlam Hamed, Inaam N. Mohamed, Maha Elseed.
5. Clinical and molecular studies in two new cases of ARSACS
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Tác giả
Ivana Ricca, Federica Morani, Giacomo Maria Bacci, Claudia Nesti.
6. Extensive clinical and genetic workup is worthwhile in patients with Leigh-like syndrome due to the TSFM variant c.547G>A
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Tác giả
Josef Finsterer.
6. Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12
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Tác giả
Jessica Rossi, Francesco Cavallieri, Giada Giovannini, Carla Budriesi.
6. Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family
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Tác giả
Eliana Marisa Ramos, Alessandro Roca, Noravit Chumchim.
6. Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy
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Tác giả
Tsutomu Yasuda, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji.
7. Acknowledgement to referees 2018/2019
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Tác giả
7. Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings
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Tác giả
Marcello Scala, Giorgia Brigati, Chiara Fiorillo, Claudia Nesti.
7. Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia
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Tác giả
Andrea Accogli, Laura Russell, Guillaume Sébire, Jean-Baptiste Rivière.
7. PTCD3 mutations cause Leigh-like rather than Leigh syndrome
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Tác giả
Josef Finsterer, Carla A. Scorza, Fulvio A. Scorza.
8. Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures
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Tác giả
Saud Alsahli, Ahmed Alfares, Francisco J. Guzmán-Vega, Stefan T. Arold.
8. Reply to the “Letter to the Editor” from Dr. J Finsterer and colleagues
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Tác giả
Yuichiro Hisatomi, Kei Murayama, Akira Ohtake, Yasushi Okazaki.
