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Terkko 2005-2021
Neurology: Genetics Year in Review.
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Molecular Diagnosis in 100% of Dystrophinopathies: Are We There Yet?.
Neurology Genetics
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Does Somatic Mosaicism Account for Some Sporadic ALS?.
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Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.
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EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease.
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Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.
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DMPK mRNA Expression in Human Brain Tissue Throughout the Lifespan.
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Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7.
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V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.
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Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder.
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Trigeminal Neuralgia TRPM8 Mutation: Enhanced Activation, Basal [Ca2+]i and Menthol Response.
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New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.
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MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor.
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WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.
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Bedside Head Impulse Test: A Useful Tool for Patients With Sensory Ataxia.
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Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome.
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Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis.
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NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism.
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Can Anti-[beta]-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?.
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Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?.
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C9orf72 and the Care of the Patient With ALS or FTD: Progress and Recommendations After 10 Years.
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Genetic Risk Scores and Hallucinations in Parkinson Disease Patients.
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Genetic risk for Alzheimer disease affects the brain throughout the lifespan.
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D-DEMO, a distinct phenotype caused by ATP1A3 mutations.
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Genetic risk scores and hallucinations in patients with Parkinson disease.
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Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy.
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Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.
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Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1.
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Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.
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Genetic risk for Alzheimer disease predicts hippocampal volume through the human lifespan.
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Disease duration in autosomal dominant familial Alzheimer disease: A survival analysis.
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Matrix metalloproteinase-degraded type I collagen is associated with APOE/TOMM40 variants and preclinical dementia.
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Integrative analysis identifies the association between CASZ1 methylation and ischemic stroke.
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Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.
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Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia.
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Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability.
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Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations.
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Childhood-onset epileptic encephalopathy due to FGF12 exon 1-4 tandem duplication.
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Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation.
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KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood.
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Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene.
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Late-onset vs nonmendelian early-onset Alzheimer disease: A distinction without a difference?.
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Neuraxial dysraphism in EPAS1-associated syndrome due to improper mesenchymal transition.
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Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy.
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