Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

Multisystem manifestations of Sjögren-Larsson syndrome in early childhood and its dental implications.

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

Morbidity and Mortality Among People Living With HTLV-1: A 30-Year Retrospective Analysis in a Brazilian Cohort.

Pain in multiple sclerosis: clinical phenotypes and therapeutic strategies - a narrative review.

Expanding the clinical and immunological phenotypes of COPB1 deficiency.

Early Recognition and Intervention for Poststroke Spasticity: A Scientific Statement From the American Heart Association.

Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.

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.

A proof-of-concept study on the effectiveness of botulinum toxin on spasticity plus syndrome in multiple sclerosis.

Lennox-Gastaut syndrome: Comorbidities and clinical implications.

Deciphering Spastic Ataxia: Clinical and Genetic Profiles.

Neurodegeneration With Brain Iron Accumulation and Ferroptosis Disorders in Children and Adults: An Imaging Review.

Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases.

Two Chinese patients with Basilicata-Akhtar syndrome caused by novel MSL3 variants: a case report and literature review.

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency.

The first description of CTNNB1 syndrome in the Tunisian population: clinical investigation, molecular docking and molecular dynamics simulation of β-catenin/E-cadherin complex.

ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Selective peripheral neurotomy for multifocal spasticity: Two-dimensional operative video.

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency.

Peripheral neuromodulation in spasticity-plus syndrome: effects of pulsed radiofrequency on tonic-painful disorders in multiple sclerosis.

Dupilumab Reduces Pruritus in Twins With Sjögren-Larsson Syndrome.

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

The efficacy and safety of the ketogenic diet in infantile epileptic spasm syndrome: a meta-analysis.

A Case of Infantile Epileptic Spasms Syndrome with the SPTBN1 Mutation and Review of βII-Spectrin Variants.

Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.

Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.

Gait abnormalities in children with FOXP1 syndrome: A case series.

Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.

A Report of a Child with SEC31A-Related Neurodevelopmental Disorder.

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

French protocol for diagnosis and management of type 1 interferonopathies.

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.

Arginase 1 deficiency: a treatable form of spastic paraplegia.

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

The implications of hyperekplexia on children's quality of life: a report on two cases.

Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.

De Novo Deletion in the 12q24.23q24.31 Chromosomal Region Causing a Neurodevelopmental Syndrome in a Female Saudi Patient: A Case Report.

Outpatient Management of Clinical Comorbidities in Children With Cerebral Palsy in Low- and Middle-Income Countries.

Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene.

Kidins220-deficient hydrocephalus mice exhibit altered glial phenotypes and AQP4 differential regulation in the retina and optic nerve, with preserved retinal ganglion cell survival.

Ambulatory children with spastic cerebral palsy have smaller bone area and deficits in trabecular microarchitecture.

Worsening spasticity due to catheter breakage during intrathecal baclofen therapy: a case report.

Intrathecal Baclofen Pump Wean and Risk of Exposure in a Large Total Body Surface Area Burn Wound Patient: A Case Report.

Sciatic nerve analysis in thyroid hormone transporters Mct8 and Oatp1c1 knockout mice.

Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition.

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus.

[Current state of algology - pain medicine - in the Russian Federation].

Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome.

Cervical myelopathy mistaken for complex regional pain syndrome: A case report.

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

Synaptic dynamics linked to widespread elevation of H-reflex before peripheral denervation in amyotrophic lateral sclerosis.

Particularities of spasticity in myelomeningocele patients.

Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly.

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

The L1CAM SAX-7 is an antagonistic modulator of Erk Signaling.

A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review.

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.

Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation.

Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study.

A case report of spastic diplegic cerebral palsy in a late preterm child with hypoplastic left heart syndrome.

Successful Electroconvulsive Therapy in Aicardi-Goutières Syndrome Presenting Psychiatric Symptoms: An Unprecedented Clinical Case.

Pure Hereditary Spastic Paraplegia in a Patient With a Novel Heterozygous KIDINS220 Gene Mutation.

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

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

The Effectiveness of Combining Botulinum Toxin Type A and Therapeutic Exercise in Treating Spasticity in a Patient with Complicated Stiff-Person Syndrome: A Case Report.

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

[Intrathecal baclofen therapy: a 30-year experience].

Expanding the phenotype of Harel-Yoon syndrome: A case report suggesting a genotype/phenotype correlation.

A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.

Electroacupuncture stimulation modulates functional brain connectivity in the treatment of pediatric cerebral palsy: a case report.

A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability.

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.

Utilizing combination intrathecal baclofen and analgesic medication to manage spasticity and pain in patients with pediatric-onset disability: Case series.

Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury.

Pediatric Spastic Wrist Contractures Can Be Well Managed With Wrist Arthrodesis.

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

Alterations in KIDINS220/ARMS Expression Impact Sensory Processing and Social Behavior in Adult Mice.

Flexor Pronator Slide Under Local Anesthesia without a Tourniquet for Non-Ischemic Contractures of the Forearm.

First report of Ageratum yellow vein virus infecting papaya in Lampung, Indonesia.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Medical comorbidities in patients with prolonged disorder of consciousness: A narrative review.

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.

Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.

Report and Abstracts of the 15th Congress of the Mediterranean Forum of Physical and Rehabilitation Medicine: Rome, July 6-8, 2023.

[The use of botulinum toxin type A in symptomatic therapy and medical rehabilitation of patients with multiple sclerosis].

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

Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature.

Pathophysiology of cervical myelopathy (Review).

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

Intranasal human-recombinant NGF administration improves outcome in children with post-traumatic unresponsive wakefulness syndrome.

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.

Towards Preclinical Validation of Arbaclofen (R-baclofen) Treatment for 16p11.2 Deletion Syndrome.

SERAC1 Deficiency- A New Phenotype.

Corticospinal tract: a new hope for the treatment of post-stroke spasticity.

Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization.

Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders.

A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity.

Aicardi syndrome in a Nigerian female child: A case report and literature review of a rare neuro-developmental disorder from North-Western Nigeria.

Tropical spastic paraparesis.

Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report.

Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.

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

Untargeted Metabolomic Analysis of Sjögren-Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways.

Epileptic encephalopathy and amelogenesis imperfecta: What about KohlschüttereTönz syndrome? Case report and literature review.

Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene.

Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.

Adolescent/Adult-Onset Leukodystrophy with MTHFR Deficiency - A Treatable Cause.

Early versus late injections of Botulinumtoxin type A in post-stroke spastic movement disorder: A literature review.

The Gross, Fine, and Oral Motor Functions in a Patient with Megalencephalic Leukoencephalopathy with Subcortical Cyst: A Case Report.

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

Quantitative measures of motor development in Angelman syndrome.

MECP2 duplication syndrome initially misdiagnosed as cerebral palsy: a case report.

Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay.

Adar-associated Aicardi Goutières syndrome in a child with bilateral striatal necrosis and recurrent episodes of transaminitis.

Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome.

Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.

The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review.

Moyamoya syndrome secondary to mitochondrial disease in a patient with partial trisomy 13q14 and 13q31: A novel case report and literature review.

Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup).

Spasticity evaluation and management tools.

TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.

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

Ap4b1-knockout mouse model of hereditary spastic paraplegia type 47 displays motor dysfunction, aberrant brain morphology and ATG9A mislocalization.

Establishment of a flow cytometry screening method for patients with glucose transporter 1 deficiency syndrome.

Pre- and Postnatal Characterization of Autosomal Recessive KIDINS220-Associated Ventriculomegaly.

Catatonia and Neuroleptic Malignant Syndrome in Patients With Cerebral Palsy: Two Case Reports and a Systematic Review of the Literature.

Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome.

Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia.

Effects of L1 adhesion molecule agonistic mimetics on signal transduction in neuronal functions.

Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.

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

Bardet-Biedl Syndrome: A Rare Case From Ophthalmology Perspective.

Brazilian practice guidelines for stroke rehabilitation: Part II.

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

Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation.

An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population.

Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants.

Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years.

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

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Multiple sclerosis and migraine: Links, management and implications.

Refractory status epilepticus with fever due to mumps vaccine-induced encephalitis caused secondary encephalopathy mimicking acute encephalopathy with biphasic seizures and late reduced diffusion.

AP-4 regulates neuronal lysosome composition, function, and transport via regulating export of critical lysosome receptor proteins at the trans-Golgi network.

[Nociceptive and mixed pains in patients with multiple sclerosis].

Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report.

Seropositive Neuromyelitis Optica in a Case of Undiagnosed Ankylosing Spondylitis: A Neuro-Rheumatological Conundrum.

ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy.

PSMC1 variant causes a novel neurological syndrome.

Retinal Detachment Present at Birth in an Infant With a Novel CTNNB1 Mutation.

Novel EPG5 Mutation Associated with Vici Syndrome Gene.

A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy.

Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports.

Mutations in TAF8 cause a neurodegenerative disorder.

[Restoration of hand function in patients with hemiparesis using mirror therapy in combination with myofascial stretching and postisometric relaxation].

Quantitative Three-Dimensional Gait Evaluation in Patients With Glucose Transporter 1 Deficiency Syndrome.

An Observational Cross-Sectional Study of Gender and Disability as Determinants of Person-Centered Medicine in Botulinum Neurotoxin Treatment of Upper Motoneuron Syndrome.

An ultra-long new onset refractory status epilepticus: Winning the battle but losing the war?

[Connotation of Baimai disease and analysis of compatibility and usage of Baimai Ointment: based on Tibetan medicine theory].

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.

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

Gait as a quantitative translational outcome measure in Angelman syndrome.

Moyamoya syndrome in a young person with Down syndrome: diagnostic and therapeutic considerations.

Motor and behavioral phenotype of Dravet syndrome in adulthood.

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.

Molybdenum cofactor deficiency: A natural history.

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.

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

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.

Rhomboencephalosynapsis: Review of the Literature.

L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant.

Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency.

[Clinical phenotype and genetic analysis of MECP2 duplication syndrome].

Development and Internal Validation of a Disability Algorithm for Multiple Sclerosis in Administrative Data.

A Diagnostic Approach to Spastic ataxia Syndromes.

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.

Functions of the (pro)renin receptor (Atp6ap2) at molecular and system levels: pathological implications in hypertension, renal and brain development, inflammation, and fibrosis.

Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia.

Electroclinical Features in MECP2 Duplication Syndrome: Pediatric Case Series.

Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.

Intrathecal baclofen therapy for severe spasticity in an adult with tethered cord syndrome: a case report.

Functional and Clinical Outcomes of Combined Simultaneous Bilateral Anterior Distal Femoral Plate Hemiepiphysiodesis and Hamstrings Release in Management of Knee Flexion Contractures in Children With Neuromuscular Disorders.

Hip Displacement in MECP2 Disorders: Prevalence and Risk Factors.

Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report.

Progressive encephalomyelitis with rigidity and myoclonus (PERM).

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.