• A 24-Year-Old Man With Spastic Ataxia and Hypodontia
• A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity
• A case of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures caused by PHF21A gene variation and review of literature
• A further case of AFG2B-related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro)
• A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism
• A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism
• A milder form of NSRP1-associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal
• A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred
• A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A
• A Novel <em>SPAST</em> Variant Associated with Isolated Spastic Paraplegia
• A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report
• A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability
• A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
• A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance
• A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of <em>ATP8A2</em> -related disorders caused by missense changes
• A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of <em>ATP8A2</em>-related disorders caused by missense changes
• A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes
• A Novel SPAST Variant Associated with Isolated Spastic Paraplegia
• Adrenomyeloneuropathy manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia: A case report and literature review
• Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1
• Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene
• Alterations in KIDINS220/ARMS Expression Impact Sensory Processing and Social Behavior in Adult Mice
• An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines
• An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study
• An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review
• AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia
• Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy
• Autosomal Dominant Spastic Paraplegia With Dysregulation of Bowel Function Associated With Heterozygous AP4S1 Gene Mutation: Case Report
• Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
• Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics
• Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
• Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study
• Cerebral Palsy Heterogeneity: Clinical Characteristics and Diagnostic Significance from a Large Sample Analysis
• Cerebral Palsy Heterogeneity: Clinical Characteristics and Diagnostic Significance from a Large-Sample Analysis
• Cerebral Palsy Phenotypes in Genetic Epilepsies
• Cerebral Palsy: A Narrative Review on Childhood Disorder
• Clinical analysis in patients with <em>SPG11</em> hereditary spastic paraplegia
• Clinical analysis in patients with SPG11 hereditary spastic paraplegia
• Clinical and functional characteristics of children and young adults with cerebral palsy and co-occurring attention-deficit/hyperactivity disorder
• Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy: A Systematic Review
• Clinical features associated with epilepsy occurrence, resolution, and drug resistance in children with cerebral palsy: A population-based study
• Clinical phenotype associated with variants in TANGO2: A case study
• Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder
• Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness
• De Sanctis-Cacchione Syndrome with Subdural Effusion: A Rare Case from India with Review of Literature
• Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder
• Effects of Pediatric Rehabilitation on Children With Spastic Quadriplegia Primary to Seizure Disorder and Global Developmental Delay: A Case Report
• Efficacy and tolerance of cannabidiol in the treatment of epilepsy in patients with Rett syndrome
• Electroacupuncture stimulation modulates functional brain connectivity in the treatment of pediatric cerebral palsy: a case report
• Emerging therapies for childhood-onset movement disorders
• Epigenetic regulation of <em>autophagy-related</em> genes: Implications for neurodevelopmental disorders
• Expanding the phenotype of Harel-Yoon syndrome: A case report suggesting a genotype/phenotype correlation
• Expert commentary for fragile X premutation mimicking late onset hereditary spastic paraplegia
• First report of Ageratum yellow vein virus infecting papaya in Lampung, Indonesia
• Fragile X premutation mimicking late onset hereditary spastic paraplegia
• Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G&gt;A (p.G1007R) autosomal dominant pathogenic variant in ADAR1
• GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
• Helicobacter pylori Infection in Children With Cerebral Palsy: A Cross-Sectional Study
• Hemiplegic (unilateral) cerebral palsy in northern Stockholm: Intellectual disability and epilepsy
• Hyperlysinemia, an ultrarare inborn error of metabolism: Review and update
• Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia
• Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization
• Is spastic ataxia 8 a protein misfolding disorder?
• KIF1A gene-associated neurological disease: the correlation between genotype and phenotype
• Late-onset spastic-ataxia due to KIF1C mutation: broadening the SPG 58 phenotype
• Lesch-Nyhan Syndrome
• Lesch-Nyhan syndrome: a case report
• Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature
• Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features
• Multiple motor disorders in cerebral palsy
• Navigating Oral Hygiene Challenges in Spastic Cerebral Palsy Patients: A Narrative Review for Management Strategies for Optimal Dental Care
• Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy
• Novel insight into the phenotype of microcephaly 19 in the patient with missense COPB2 mutation
• Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
• Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report
• Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5
• Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A
• Physical health conditions in young children with profound intellectual and multiple disabilities: The prevalence and associations between these conditions
• Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia
• Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias
• PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology
• POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation
• POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy
• Pure Hereditary Spastic Paraplegia in a Patient With a Novel Heterozygous KIDINS220 Gene Mutation
• RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review
• Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases
• Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome
• Risk factors and outcome of epilepsy in adults with cerebral palsy or intellectual disability
• Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans
• SERAC1 Deficiency- A New Phenotype
• Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury
• Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5
• The DDHD2-STXBP1 interaction mediates long-term memory via generation of saturated free fatty acids
• The potential for medicinal cannabis to help manage challenging behaviour in people with intellectual disability: A perspective review
• The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome
• Therapeutic effects of extracorporeal shock wave therapy on patients with spastic cerebral palsy and Rett syndrome: clinical and ultrasonographic findings
• TMEM63 mechanosensitive ion channels: Activation mechanisms, biological functions and human genetic disorders
• TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
• Type 1 early infantile epileptic encephalopathy: A case report and literature review
• Unraveling neuroimaging insights in developmental epileptic encephalopathy type 25: a comprehensive review of reported cases and a novel SLC13A5 variant