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Mashup Score: 10Refining the Phenotypic and Genotypic Spectrum of WDR73-Related Galloway-Mowat Syndrome | Neurology Genetics - 14 hour(s) ago
Background and ObjectivesThe aim of this report was to describe the phenotypic and genotypic spectrum of WDR73-related Galloway-Mowat syndrome (GAMOS).MethodsThis study comprises a case series conducted from January 2016 to October 2024, along with a …
Source: www.neurology.orgCategories: General Medicine News, NeurologyTweet
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Mashup Score: 3Submit Your Work | Neurology Genetics - 3 day(s) ago
A peer-reviewed clinical and translational neurology open access journal
Source: www.neurology.orgCategories: General Medicine News, NeurologyTweet-
Publish your research in Neurology Genetics, an online, open access journal publishing peer-reviewed reports in the field of neurogenetics! Learn more about the journal and how to submit your manuscript: https://t.co/y7rdyv2SYn #NeuroGenetics #NeuroTwitter https://t.co/VaVUBYzlZG
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Mashup Score: 38Spinocerebellar Ataxia Type 2 | Neurology Genetics - 6 month(s) ago
Spinocerebellar ataxias (SCAs) are dominantly inherited diseases that lead to neurodegeneration in the cerebellum and other parts of the nervous system. This review examines the progress that has been made in SCA2 from its initial clinical description to …
Source: www.neurology.orgCategories: General Medicine News, NeurologyTweet-
Spinocerebellar Ataxia Type 2: A Review and Personal Perspective https://t.co/tsWHjtkRSm #NeuroGenetics #NeuroTwitter https://t.co/7MP8Ai2jOu
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Mashup Score: 101Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy | Neurology Genetics - 9 month(s) ago
Although X-linked adrenoleukodystrophy (ALD) has historically been considered a childhood disease managed by pediatric neurologists, it is one of the most common leukodystrophies diagnosed in adulthood. An increase in both male and female adults reaching …
Source: www.neurology.orgCategories: General Medicine News, NeurologyTweet-
Review: Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy https://t.co/0DiTZrbihE #NeuroGenetics #NeuroTwitter https://t.co/thDy79mIZt
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Mashup Score: 18Macrostructural Brain Abnormalities in Spinal Muscular Atrophy | Neurology Genetics - 10 month(s) ago
Background and ObjectivesMost individuals with spinal muscular atrophy (SMA) on disease-modifying therapies continue to have chronic motor impairment. Insights into brain involvement in SMA may open new pathways for adjunctive therapies to optimize …
Source: www.neurology.orgCategories: General Medicine News, NeurologyTweet-
According to this study, individuals with spinal muscular atrophy (SMA) have higher rates of macrostructural brain abnormalities than their normally developing peers, suggesting CNS involvement in SMA: https://t.co/sJpJcsw6ZC #NeuroGenetics #NeuroTwitter https://t.co/lnQVAOOV6I
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Mashup Score: 142Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic Stroke | Neurology Genetics - 11 month(s) ago
Genetic arteriopathies leading to stroke in adults constitute a diverse group of cerebrovascular disorders with distinct etiologies, pathophysiologic mechanisms, and clinical presentations. As imaging modalities better delineate subtle changes in cerebral …
Source: www.neurology.orgCategories: General Medicine News, NeurologyTweet-
Review: Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic Stroke https://t.co/eDU8ddxyuv #NeuroGenetics #NeuroTwitter https://t.co/0diMNns1mW
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Mashup Score: 10Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy | Neurology Genetics - 1 year(s) ago
Background and ObjectivesSpinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by the loss or presence of point pathogenic variants in the SMN1 gene. The main positive modifier of the SMA phenotype is the number of copies of the SMN2 …
Source: www.neurology.orgCategories: General Medicine News, NeurologyTweet-
This study investigated complex SMN hybrids detected in a cohort of 31 patients with spinal muscular atrophy: https://t.co/henrVNJqDg #NeuroGenetics #NeuroTwitter https://t.co/ytZOttYpl7
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Mashup Score: 58Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy | Neurology Genetics - 1 year(s) ago
ObjectivesTo present a case series of novel CHD2 variants in patients presenting with genetic epileptic and developmental encephalopathy.BackgroundCHD2 gene encodes an ATP-dependent enzyme, chromodomain helicase DNA-binding protein 2, involved in …
Source: www.neurology.orgCategories: General Medicine News, NeurologyTweet-
Clara-Hwang and colleagues present a case series of novel CHD2 variants in patients presenting with genetic epileptic and developmental encephalopathy: https://t.co/OheMm74VL2 #NeuroGenetics #NeuroTwitter https://t.co/PBp74180c9
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Mashup Score: 16Novel Genetic Variant in HUWE1 | Neurology Genetics - 1 year(s) ago
ObjectivesTo provide a comprehensive description of neuroradiologic findings in a patient with a probable pathogenic variant of HUWE1, particularly in relation to pontine and cerebellar hypoplasia.MethodsWe first report prenatal and postnatal …
Source: www.neurology.orgCategories: General Medicine News, NeurologyTweet-
This Clinical/Scientific Note provides a comprehensive description of neuroradiologic findings in a patient with a probable pathogenic variant of HUWE1, particularly in relation to pontine and cerebellar hypoplasia: https://t.co/B7iCAGS8Fm #NeuroGenetics #NeuroTwitter https://t.co/zi7Az2C60Q
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Mashup Score: 29Disease Progression and Multiparametric Imaging Characteristics of Spinocerebellar Ataxia Type 3 With Spastic Paraplegia | Neurology Genetics - 1 year(s) ago
Background and ObjectivesSpinocerebellar ataxia type 3 (SCA3) is a hereditary ataxia that occurs worldwide. Clinical patterns were observed, including the one characterized by marked spastic paraplegia. This study investigated the clinical features, …
Source: www.neurology.orgCategories: General Medicine News, NeurologyTweet-
This study investigated the clinical features, disease progression, and multiparametric imaging aspects of patients with spinocerebellar ataxia type 3 (SCA3): https://t.co/ks8hdnZ2iU #NeuroGenetics #NeuroTwitter https://t.co/esqljYo70J
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Refining the Phenotypic and Genotypic Spectrum of WDR73-Related Galloway-Mowat Syndrome: A Case Series and Systematic Review https://t.co/pjnvl6cPNz #NeuroGenetics #NeuroTwitter https://t.co/ypE6ifwkCu