Znhit3 regulates p53/p21 signaling and governs cerebellar granule cell development.

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.

Child Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay.

PRPS1 (p.V42L) Mutation in Arts Syndrome Induces Aberrant Neural Stem Cell Development and Neuronal Senescence-Like Phenotype: Rescue by Nicotinamide Mononucleotide Supplementation.

Erythropoietin alleviates syndrome-associated intellectual disability and autism-like behavior in Zbtb20-haploinsufficient Primrose syndrome mouse model.

Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder.

Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions.

Neurological Consequences of Infantile Vitamin B12 Deficiency - A Prospective Cohort Study.

First demyelinating attack in children: A twelve year single center cohort.

Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature.

Clinical Phenotypes and Prognosis of Anti-mGluR1 Encephalitis: A Single-Center Case Series and Comprehensive Literature Review.

Expanding the neurological spectrum of HTLV-1 beyond HAM/TSP: a contemporary perspective.

Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings.

Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.

Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.

[Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review].

Cerebellar and cerebral contributions to dual physical-cognitive impairment in middle-aged and older adults: Potential biomarkers and therapeutic targets for healthy aging.

Clinical Framework for Motor Rehabilitation in Parkinsonism: Integrating Individualized and Syndrome-Specific Approaches.

Effect of Aminopyridines on Oculomotor Dysfunction in Anti-GAD Ataxia: A Brief Report.

Deciphering Spastic Ataxia: Clinical and Genetic Profiles.

VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.

Daflon attenuates cisplatin-induced cerebellar neurotoxicity, anxiety-like behavior, and motor dysfunction by downregulating TLR4/NF-kB signaling.

WDR81 Mutation in Two Siblings: A Case Report and Review of Literature.

Diagnostic odyssey of opsoclonus-myoclonus syndrome and barriers to early detection.

Case Report: A 1-year progression of mediolateral gait instability during tandem walking in FXTAS.

EPG5-Related Disorders in Seven New Patients: Refining the Phenotypic Spectrum and Insights on Phenotype-Genotype Correlations.

ADNP Exhibits Methyltransferase Activity in Overexpression Systems and Modulates DNA and Histone Methylation.

A Novel Mouse Model for Developmental and Epileptic Encephalopathy by Purkinje Cell-Specific Deletion of Scn1b.

A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment.

Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review.

Motor, cognitive, affective, and communication outcomes in patients with sustained remission of opsoclonus-myoclonus-ataxia syndrome.

Understanding cognitive features of cervical dystonia: application of the cerebellar cognitive affective syndrome scale (CCAS-S).

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

Case 341: Infratentorial Posterior Reversible Encephalopathy Syndrome Associated with Interferon-β in Relapsing Multiple Sclerosis.

Lance-Adams Syndrome: An Updated Review of a Rare Post-Hypoxic Complication.

Diagnostic Challenges in Fahr's Disease: A Rare Case of Extensive Basal Ganglia Calcifications.

Neuropathological findings of very low-density lipoprotein receptor-related cerebellar hypoplasia in a full-term fetus.

Novel neuropathological observations in an adult with Dravet syndrome.

Chronic Early-Life Obesity Linked to Childhood Impulsivity Predicts Long-Term Psychosis Trajectory Through Dose-Dependent Cerebellar Dysmaturation in 22q11.2 Deletion Syndrome.

Deletion of the SHORT Syndrome Gene Prkce Results in Brain Atrophy and Cognitive and Motor Behavior Deficits in Mice.

Speech and Language Development of Two Brothers With Bainbridge-Ropers Syndrome: Phenotypic and Bioinformatic Support for a Cerebellar ASXL3 Hypothesis.

Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families.

Spatial perspective taking is impaired in spinocerebellar ataxias and Friedreich ataxia.

A comparative study on clinico-radiological profile, treatment responses and outcomes of double seronegative NMOSD compared to AQP4-IgG positive NMOSD, and MOGAD.

RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome.

Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.

Poretti-Boltshauser Syndrome: A Potential Pathognomonic "Wolfjaw" Pattern of Retinal Perfusion.

Neurological Complications in Inborn Errors of Immunity: A Scoping Review of Clinical Spectrum, Pathophysiological Mechanisms, and Therapeutic Strategies.

Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder.

Expanding the Clinical, Pathological, and Molecular Phenotypes of Tetratricopeptide 19 (TTC19) Gene Mutations: A Case Report from India.

Functional Assessment of the Subjects with Unertan Syndrome: 10 Years Follow-Up Study.

Developmental and Epileptic Encephalopathy as a Novel Clinical Hallmark of SCA21.

Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.

Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics.

Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome.

Cerebellum-Predominant Progressive Multifocal Leukoencephalopathy: An Under-recognized Cause of Cerebellar Syndrome among People with Human Immunodeficiency Virus Infection.

POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report.

Case Series of Prenatally Diagnosed Cri du Chat Syndrome With Associated Magnetic Resonance Imaging Findings.

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.

Abnormal brain networks in Meiges syndrome based on centrality analysis and functional network connectivity: a cross-sectional analysis.

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Jun N-Terminal Kinase Inhibitor Suppresses CASK Deficiency-Induced Cerebellar Granular Cell Death in MICPCH Syndrome Model Mice.

A 19q13 microdeletion syndrome presenting with punding, frangophilia, hypermetamorphosis, frontal lobe and vermal hypoplasia, with depression misdiagnosed as schizophrenia, treated with mirtazapine.

Globally Reduced Brain Volume in Rett Syndrome.

Neurological findings in a cohort of adults with down syndrome.

Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations.

Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome can Lead to Long-Term Neurological, Neuropsychological, and Cognitive Sequelae Associated with Cerebellar Atrophy.

Clinical Features and Outcomes of Glutamic Acid Decarboxylase-65 Antibody-Associated Pure Cerebellar Ataxia and Stiff Person Syndrome Spectrum Disorders: A Single-Center Cohort Study.

Core diagnostic features of stiff person syndrome: insights from a case-control study.

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Expanding the spectrum of ATP8A2 mutations: a new splicing variant and systematic review of CAMRQ4 syndrome.

Cerebellar Ataxia-deafness-narcolepsy (ADCA) syndrome. Description of a variable family phenotype.

De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome.

Neuroanatomical features of NAA10 and NAA15-related neurodevelopmental syndromes.

Sensory Dysfunction in ALS and Other Motor Neuron Diseases: Clinical Relevance, Histopathology, Neurophysiology, and Insights from Neuroimaging.

Diffuse but Non-homogeneous Brain Atrophy: Identification of Specific Brain Regions and Their Correlation with Clinical Severity in Rett Syndrome.

Motor markers of congenital cerebellar hypoplasia.

Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.

Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish.

Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice.

Cerebellar Ataxia, Impaired Intellectual Development, and Disequilibrium Syndrome-2: A Case Report.

The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes.

Movement Disorders in Hereditary Cerebellar Ataxia.

Clinical, biological, and neuroimaging profiles for motoric cognitive risk syndrome in older adults: The MIND-China study.

Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7-Year Follow-Up With Clinical, Genetic, and ACMG Insights in an Iranian Family.

Poretti-Boltshauser Syndrome: A Report of Two Cases From Bahrain With a Novel Mutation and Literature Review.

Phenotypic variability in two siblings with Poretti-Boltshauser syndrome.

Smartphone postural sway and pronator drift tests as measures of neurological disability.

Viral vector-mediated SLC9A6 gene replacement reduces cerebellar dysfunction in the shaker rat model of Christianson syndrome.

Azygos Vein Stenosis in Frontotemporal Dementia Sagging Brain Syndrome.

Neurodevelopmental Abnormalities in Down Syndrome: Assessing Structural and Functional Deficits.

Novel Meningoencephalomyelitis Associated With Vimentin IgG Autoantibodies.

An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.

Clinical Manifestations and Treatment Responses in Pediatric Neurofascin 155-IgG4 Autoimmune Nodopathy.

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome.

Structural and functional properties of the N- and C-terminal segments of the P4-ATPase phospholipid flippase ATP8A2.

Non-malignant features of cancer predisposition syndromes manifesting in childhood and adolescence: a guide for the general pediatrician.

Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.

N-Acetylcysteine Counteracts Immune Dysfunction and Autism-Related Behaviors in the Shank3b Mouse Model of Autism Spectrum Disorder.

Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.

Expanding the phenotyping spectrum of Witteveen Kolk syndrome: first report of generalized dystonia and cerebellar ataxia.

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.

A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other CNS Structural Abnormalities.

PHARC syndrome: an overview.

Rehabilitation and Physiotherapy Action Strategy for an Acute Case of Lateral Medullary Syndrome: A Case Report.

Pediatric Spinal Vascular Abnormalities: Overview, Diagnosis, and Management.

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.

New Insights Into TRMT10A Syndrome: Case Report and Literature Review.

Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry.

Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

Cornelia de Lange Syndrome: Expanding the Neuropathological Spectrum and Clinical Correlations.

Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.

Atlantoaxial Instability due to Os Odontoideum in a Child with Christianson Syndrome.

[Genetic analysis of a fetus with Coffin-Siris syndrome 2 due to a novel variant of ARID1A gene].

[Cerebellar cognitive affective syndrome and vertebrobasilar ischemia. From cerebello-cerebral diaschisis to "dysmetria of thought"].

Neural precursor cells rescue symptoms of Rett syndrome by activation of the Interferon γ pathway.

Clinical Course of Neurologic Adverse Events Associated With Immune Checkpoint Inhibitors: Focus on Chronic Toxicities.

The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.

CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report.

Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.

Nerve ultrasound in CANVAS-spectrum disease: Reduced nerve size distinguishes genetically confirmed CANVAS from other axonal polyneuropathies.

Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.

Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.

Immune Checkpoint Inhibitor-Related Cerebellar Toxicity: Clinical Features and Comparison with Paraneoplastic Cerebellar Ataxia.

Natural history of non-polyglutamine CACNA1A disease in Austria.

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family.

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.

Diagnostic MRI Score to Differentiate Susac Syndrome from Primary Angiitis of the Central Nervous System and Multiple Sclerosis.

Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.

Identification of novel variants in BRF1 gene from patient with developmental delay, hearing abnormality, and nervous system anomalies.

Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes.

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Microcornea, cerebellar hypoplasia and hyperlax joints-unusual combo in rare Ehlers-Danlos syndrome-musculocontractural type 1.

CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.

Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.

Rescue of myocytes and locomotion through AAV2/9-2YF intracisternal gene therapy in a rat model of creatine transporter deficiency.

Lance-Adams Syndrome in the Intensive Care Unit: A Case Report.

Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome.

Bedside clinical assessment of patients with common upper limb tremor and algorithmic approach.

Zmiz1 is a novel regulator of brain development associated with autism and intellectual disability.

ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case.

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.

Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder.

Vestibular Testing and Impairments in Postoperative Pediatric Cerebellar Mutism Syndrome: A Case Series.

Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases.

Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.

Measurement of synaptic density in Down syndrome using PET imaging: a pilot study.

Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37.

PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.

Cerebellar cognitive affective syndrome with long-term features of autism spectrum disorder: evidence in a 9-year-old girl after vermian medulloblastoma surgery.

Understanding the role of AMPA receptors in autism: insights from circuit and synapse dysfunction.

A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia.

Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.

Investigating brain alterations in the Dp1Tyb mouse model of Down syndrome.

A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus.

The effects of response disequilibrium on social media use: A laboratory analogue.

IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia.

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.

Multiple sclerosis under the age of ten: the challenge of a rare diagnosis in a special population - a case series.

Abnormal Neurologic Findings in Patients With Sickle Cell Disease Without a History of Major Neurologic Events.

Craniocervical instability in patients with Ehlers-Danlos syndromes: outcomes analysis following occipito-cervical fusion.

Late-onset stiff-person syndrome: challenges in diagnosis and management.

Coenzyme Q10: A Biomarker in the Differential Diagnosis of Parkinsonian Syndromes.

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.

A novel NONO nonsense variant in a fetus with renal abnormalities.

Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

Expanding clinical profiles and prognostic markers in stiff person syndrome spectrum disorders.

A case report of anti-GAD65 antibody-positive autoimmune encephalitis in children associated with autoimmune polyendocrine syndrome type-II and literature review.

Splicing variant of WDR37 in a case of Neurooculocardiogenitourinary syndrome.

Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.

Genetic Insights into the causal relationship between cannabis use and diabetic phenotypes: A genetic correlation and Mendelian randomization study.

Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and Adults.

Diversity and Surgical Management of Intracranial Fungal Infections.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1.

Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia.

Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.

Monocular Torsional Oscillopsia in Dentato-olivary Disconnection.

Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.

Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.

Grey-matter correlates of empathy in 4-Repeat Tauopathies.

Assessment of Multiple Aspects of Upper Extremity Function Independent From Ambulation in Patients With Multiple Sclerosis.

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.

Assessment and tailored physical rehabilitation approaches in persons with cerebellar impairments targeting mobility and walking according to the International Classification of Functioning: a systematic review of case-reports and case-series.

Clinical and genetic characterization of a Chinese family with pontocerebellar hypoplasia type 7.

Neuroimaging research in Williams syndrome: Beginning to bridge the gap with clinical care.