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View article: Agentic Generative Artificial Intelligence System for Classification of Pathology-Confirmed Primary Progressive Aphasia Variants
Agentic Generative Artificial Intelligence System for Classification of Pathology-Confirmed Primary Progressive Aphasia Variants Open
Importance Accurate clinical and pathological diagnoses are essential in neurodegenerative diseases, especially given the emergence of pathology-specific disease-modifying therapies. However, diagnostic accuracy remains challenging due to …
View article: Novel Genetic Variation in the KIF1A Gene Associated With Cerebellar Vermis Hypoplasia: A Case Report
Novel Genetic Variation in the KIF1A Gene Associated With Cerebellar Vermis Hypoplasia: A Case Report Open
KIF1A-associated neuronal disorder (KAND) is a spectrum of disease caused by a genetic mutation in the KIF1A gene. Genetic variants in this gene have been associated with cerebellar vermis hypoplasia, as well as mild to sever…
View article: MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors
MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors Open
These findings demonstrate applicability of our personalized MRD4U assay in early detection of disease recurrence. Unlike non-targeted or tumor-agnostic CSF liquid biopsy approaches, MRD4U leverages patient-specific genomic information to …
View article: The Two Faces of Pediatric <scp>SCA2</scp>
The Two Faces of Pediatric <span>SCA2</span> Open
Introduction Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurological disease usually described in adults. Expanded CAG repeats in the ATXN2 gene can lead to pediatric onset. This study aims to describe the natural histor…
View article: Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort
Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort Open
Atypical neuroaxonal dystrophy (ANAD) is a rare form of neurodegeneration linked to the PLA2G6 gene. Unlike classical infantile neuroaxonal dystrophy (INAD), it occurs later in childhood and seems less progressive. It appears phenotypicall…
View article: Delayed Viral Rebound Post ART Interruption in Infant Macaques Given SIV-Specific Neutralizing Antibodies
Delayed Viral Rebound Post ART Interruption in Infant Macaques Given SIV-Specific Neutralizing Antibodies Open
View article: Spatial Characterization of White Matter Hyperintensity Pathophysiology Across Disorders
Spatial Characterization of White Matter Hyperintensity Pathophysiology Across Disorders Open
Background White matter hyperintensities (WMHs) are age‐related radiological abnormalities indicative of small vessel disease. It is unclear if WMHs in different regions represent similar pathophysiology and etiology. Here, we developed a …
View article: Spatial Characterization of White Matter Hyperintensity Pathophysiology Across Disorders
Spatial Characterization of White Matter Hyperintensity Pathophysiology Across Disorders Open
Background White matter hyperintensities (WMHs) are age‐related radiological abnormalities indicative of small vessel disease. It is unclear if WMHs in different regions represent similar pathophysiology and etiology. Here, we developed a …
View article: 20596. NEUROPATÍA HEREDITARIA TIPO CMT2 SECUNDARIA A MUTACIONES EN EL GEN SORD
20596. NEUROPATÍA HEREDITARIA TIPO CMT2 SECUNDARIA A MUTACIONES EN EL GEN SORD Open
View article: Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined
Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined Open
Introduction In the setting of pediatric and adolescent young adult cancer, increased access to genomic profiling has enhanced the detection of genetic variation associated with cancer predisposition, including germline syndromic condition…
View article: Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up
Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up Open
Objective To describe the MR features enabling prenatal diagnosis of pontocerebellar hypoplasia (PCH). Method This was a retrospective single monocentre study. The inclusion criteria were decreased cerebellar biometry on dedicated neuroson…
View article: An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP Open
View article: A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in<i>VCP</i>
A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in<i>VCP</i> Open
Valosin-containing protein (VCP) is an AAA+ ATPase that plays critical roles in multiple ubiquitin-dependent cellular processes. Dominant pathogenic variants in VCP are associated with adult-onset multisystem proteinopathy (MSP) that prese…
View article: Recurrent Extramedullary Relapse of Immunophenotypically Aberrant B Lymphoblastic Leukemia to Unusual Sites After Allogeneic Hematopoietic Stem Cell Transplantation: A Case Report.
Recurrent Extramedullary Relapse of Immunophenotypically Aberrant B Lymphoblastic Leukemia to Unusual Sites After Allogeneic Hematopoietic Stem Cell Transplantation: A Case Report. Open
Background B-Acute Lymphoblastic Leukemia can rarely present with extramedullary involvement to non-CNS/testicular sites. Extramedullary relapse of B-ALL after allogeneic hematopoietic stem cell transplant is not well described in the lite…
View article: Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation Open
This is the first study to describe a series of 13 patients with medullary tegmental cap dysplasia. The cap has different shapes: distinct in Joubert-Boltshauser syndrome and fibrodysplasia ossificans progressive. Due to the variations in …
View article: Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders Open
TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in TRPM3 were identified in individuals with developmental and epi…
View article: Author response: Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
Author response: Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders Open
View article: New insights into <i>CC2D2A</i>-related Joubert syndrome
New insights into <i>CC2D2A</i>-related Joubert syndrome Open
Purpose In this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes, CC2D2A . Methods We selected 53 patients w…
View article: Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome Open
The endocannabinoid system is a highly conserved and ubiquitous signalling pathway with broad-ranging effects. Despite critical pathway functions, gene variants have not previously been conclusively linked to human disease. We identified n…
View article: Tubing Connection Evaluation Methodology and Test Protocol for CCS Injection Wells
Tubing Connection Evaluation Methodology and Test Protocol for CCS Injection Wells Open
View article: Table of Contents
Table of Contents Open
View article: <i>PURA-</i> Related Developmental and Epileptic Encephalopathy
<i>PURA-</i> Related Developmental and Epileptic Encephalopathy Open
The PURA syndrome presents with a developmental and epileptic encephalopathy with characteristics recognizable from neonatal age, which should prompt genetic screening. Sixty percent have drug-resistant epilepsy with focal or genera…
View article: Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia Open
Hereditary spastic paraplegia refers to rare genetic neurodevelopmental and/or neurodegenerative disorders in which spasticity due to length-dependent damage to the upper motor neuron is a core sign. Their high clinical and genetic heterog…
View article: Implication of folate deficiency in CYP2U1 loss of function
Implication of folate deficiency in CYP2U1 loss of function Open
Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders. Understanding of their pathogenic mechanisms remains sparse, and therapeutic options are lacking. We characterized a mouse model lacking the Cyp2u1 gene, loss of…
View article: Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities Open
View article: Area Postrema Syndrome as the Initial Presentation of Alexander Disease
Area Postrema Syndrome as the Initial Presentation of Alexander Disease Open
A 16-year-old boy presented with 6 years evolution of anorexia, failure to thrive, nocturnal vomiting, and dysphagia. He was exhaustively explored. Neurologic examination was normal except hoarse voice. MRI revealed a hyperintensity of the…
View article: Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity Open
View article: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities Open
View article: Paranasal Mass in a Healthy Male Toddler
Paranasal Mass in a Healthy Male Toddler Open
Head and neck tumors are rare in pediatric patients but should be kept in the differential when a patient presents with a new swelling or mass. One of these tumors is a myxoma, which is an insidiously growing, benign mass originating from …
View article: Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma
Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma Open