Cargando…

Correction: A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity

Detalles Bibliográficos
Autores principales:	Hama, Yuka, Date, Hidetoshi, Fujimoto, Akiko, Matsui, Ayano, Ishiura, Hiroyuki, Mitsui, Jun, Yamamoto, Toshiyuki, Tsuji, Shoji, Mizusawa, Hidehiro, Takahashi, Yuji
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer US 2022
Materias:	Correction
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10657315/ https://www.ncbi.nlm.nih.gov/pubmed/36322330 http://dx.doi.org/10.1007/s12311-022-01490-5

Ejemplares similares

A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
por: Hama, Yuka, et al.
Publicado: (2022)

A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia
por: Kurihara, Masanori, et al.
Publicado: (2019)

The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case
por: Yoshikawa, Keisuke, et al.
Publicado: (2018)

Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia
por: Naruse, Hiroya, et al.
Publicado: (2019)

Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder
por: Ishiura, Hiroyuki, et al.
Publicado: (2023)

Spinocerebellar Ataxia Type 31 Exacerbated by Anti-amino Terminal of Alpha-enolase Autoantibodies
por: Zeniya, Satoshi, et al.
Publicado: (2022)

Biallelic variants in KIF14 cause intellectual disability with microcephaly
por: Makrythanasis, Periklis, et al.
Publicado: (2018)

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability
por: Malvezzi, João VM, et al.
Publicado: (2018)

Novel de novo POLR3B mutations responsible for demyelinating Charcot–Marie–Tooth disease in Japan
por: Ando, Masahiro, et al.
Publicado: (2022)

Consensus Paper: Neuroimmune Mechanisms of Cerebellar Ataxias
por: Mitoma, Hiroshi, et al.
Publicado: (2015)

Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis
por: Ikenaga, Chiseko, et al.
Publicado: (2022)

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins
por: Marchionni, Enrica, et al.
Publicado: (2019)

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy
por: Higuchi, Yujiro, et al.
Publicado: (2018)

A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan
por: Yasui, Kenichi, et al.
Publicado: (2014)

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination
por: Duchesne, Amandine, et al.
Publicado: (2018)

A novel KIF5A gene variant causes spastic paraplegia and cerebellar ataxia
por: Qiu, Yusen, et al.
Publicado: (2018)

Impaired Adaptive Motor Learning Is Correlated With Cerebellar Hemispheric Gray Matter Atrophy in Spinocerebellar Ataxia Patients: A Voxel-Based Morphometry Study
por: Bando, Kyota, et al.
Publicado: (2019)

Assessment and Rating of Motor Cerebellar Ataxias With the Kinect v2 Depth Sensor: Extending Our Appraisal
por: Honda, Takeru, et al.
Publicado: (2020)

Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy
por: Kakumoto, Toshiyuki, et al.
Publicado: (2023)

De novo diagnostics of patients with intellectual disability
por: Veltman, Joris A
Publicado: (2012)

The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation
por: Takegami, Naoki, et al.
Publicado: (2023)

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
por: Esmaeeli Nieh, Sahar, et al.
Publicado: (2015)

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease
por: Harigaya, Yasuo, et al.
Publicado: (2017)

Loss of MyD88 alters neuroinflammatory response and attenuates early Purkinje cell loss in a spinocerebellar ataxia type 6 mouse model
por: Aikawa, Tomonori, et al.
Publicado: (2015)

De Novo Mutations in Moderate or Severe Intellectual Disability
por: Hamdan, Fadi F., et al.
Publicado: (2014)

Regulatory de novo mutations underlying intellectual disability
por: De Vas, Matias G, et al.
Publicado: (2023)

Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy
por: Yuan, Jun-Hui, et al.
Publicado: (2022)

A Homozygous LAMA2 Mutation of c.818G＞A Caused Partial Merosin Deficiency in a Japanese Patient
por: Kubota, Akatsuki, et al.
Publicado: (2017)

Lithium Therapy Improves Neurological Function and Hippocampal Dendritic Arborization in a Spinocerebellar Ataxia Type 1 Mouse Model
por: Watase, Kei, et al.
Publicado: (2007)

JASPAC: Japan Spastic Paraplegia Research Consortium
por: Koh, Kishin, et al.
Publicado: (2018)

HIV Dementia with a Decreased Cardiac (123)I-metaiodobenzylguanidine Uptake Masquerading as Dementia with Lewy Bodies
por: Kurihara, Masanori, et al.
Publicado: (2018)

Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation
por: Pandolfo, Massimo, et al.
Publicado: (2020)

Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability
por: Protasova, Maria S., et al.
Publicado: (2023)

The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features
por: Hanafusa, Hiroaki, et al.
Publicado: (2017)

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
por: Takahashi, Yuji, et al.
Publicado: (2022)

Prognostic Significance of KIF11 and KIF14 Expression in Pancreatic Adenocarcinoma
por: Klimaszewska-Wiśniewska, Anna, et al.
Publicado: (2021)

Quantitative evaluation of upper limb ataxia in spinocerebellar ataxias
por: Kishimoto, Yoshiyuki, et al.
Publicado: (2022)

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
por: Smets, Katrien, et al.
Publicado: (2015)

Ultrastructural localization of de novo synthesized phosphatidylcholine in yeast cells by freeze-fracture electron microscopy
por: Tsuji, Takuma, et al.
Publicado: (2021)

De novo substitutions of TRPM3 cause intellectual disability and epilepsy
por: Dyment, David A., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_4s0t1q2db44gt22bv81u4v26cc