Expanding the clinical and immunological phenotypes of COPB1 deficiency.

Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.

Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson's syndrome.

The genetics of autosomal recessive ALS: a review of the common forms and their phenotypes.

The Age of Definitive Fusion Surgery for Early Onset Scoliosis Has Remained Constant Over the Past 2 Decades.

Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization.

Kohlschütter-Tönz Syndrome: A Rare Clinical Entity with Amelogenesis Imperfecta in Two Siblings, Dental Management and Scoping Review.

Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures.

Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review.

French protocol for diagnosis and management of type 1 interferonopathies.

A Novel TAF1C Missense Variant Causes Neurodevelopmental Regression via Disrupted Nucleolar Localization and Nucleoplasmic Aggregation.

[A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs].

The phenotypic spectrum of PTCD3 deficiency.

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

Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.

Adult-onset deletion of ATP13A2 in mice induces progressive nigrostriatal pathway dopaminergic degeneration and lysosomal abnormalities.

Case report: Early-onset Parkinson's disease with lower limb spasticity in a new DJ-1/PARK7 patient.

Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.

Type 1 early infantile epileptic encephalopathy: A case report and literature review.

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.

ATP13A2 (PARK9) and basal ganglia function.

Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1.

The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.

Vestibular Hypofunction in ARSACS Syndrome: A Possible Pitfall in the Differential Diagnosis of Recessive Cerebellar and Afferent Ataxias.

GRM7-related disorder: five additional patients from three independent families and review of the literature.

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

Juvenile Dermatomyositis and Infantile Cerebral Palsy: Aicardi-Gouteres Syndrome, Type 5, with a Novel Mutation in SAMHD1-A Case Report.

Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk.

RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3.

Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype: A Case Report.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Rapidly Progressive Frontotemporal Dementia With Amyotrophic Lateral Sclerosis in an Elderly Female.

Case report: Early-onset Parkinson's disease with initial spastic paraparesis and hyperreflexia caused by compound heterozygous PRKN-gene exon 2 and 4 deletions.

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.

Phenotypic continuum of NFU1-related disorders.

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

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.

One Molecule for Mental Nourishment and More: Glucose Transporter Type 1-Biology and Deficiency Syndrome.

Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis.

Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report.

Motor and behavioral phenotype of Dravet syndrome in adulthood.

De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome.

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.

SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review.

Very Early-Onset Alzheimer's Disease in the Third Decade of Life with de novo PSEN1 Mutations.

Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome.

De Novo PS1 Mutation (Pro436Gln) in a Very Early-Onset Posterior Variant of Alzheimer's Disease Associated with Spasticity: A Case Report.

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.

A Novel Approach to New-Onset Hemiplegic Shoulder Pain With Decreased Range of Motion Using Targeted Diagnostic Nerve Blocks: The ViVe Algorithm.

NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.

Neuro-Ophthalmic Phenotype of OPA3.

Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

[Resistant epileptic encephalopathy in a child with microcephalic capillary malformation syndrome].

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.

Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report.

Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.

Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review.

Spinocerebellar ataxia type 48: last but not least.

Diagnosis of Aicardi-Goutières Syndrome in Adults: A Case Series.

Clinical features of inherited neuropathy with BSCL2 mutations in Japan.

Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.

A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13.

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.

Charcot-Marie-Tooth disease and related disorders: an evolving landscape.

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.

Axonal autophagosome maturation defect through failure of ATG9A sorting underpins pathology in AP-4 deficiency syndrome.

Glucose Transporter Type 1 Deficiency Syndrome: Developmental Delay and Early-Onset Ataxia in a Novel Mutation of the SLC2A1 Gene.

[Proteins from Vps13 family: from molecular function to pathogenesis of neurodegenerative disorders].

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.

Electroencephalographic and epilepsy findings in mecp2 duplication syndrome. A family study.

West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.

The glucose transporter type 1 (Glut1) syndromes.

Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation.

[Hereditary optic neuropathies in pediatric ophthalmology].

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.

Deep brain stimulation for dystonia due to cerebral palsy: A review.

Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.

Amino acid synthesis deficiencies.

The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.

WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.

Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series‎.

Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants.

Early-onset spastic paraparesis as presenting sign of familial Creutzfeldt-Jakob disease.

Severe CNS involvement in WWOX mutations: Description of five new cases.

The Effects of Ketogenic Diet on Seizures, Cognitive Functions, and Other Neurological Disorders in Classical Phenotype of Glucose Transporter 1 Deficiency Syndrome.

Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.

Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?

Contiguous mutation syndrome in the era of high-throughput sequencing.

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.

Brief Report: IFIH1 Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency.

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.

The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.

SPTAN1 encephalopathy: distinct phenotypes and genotypes.