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The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene
The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene

NEURIMMINFL2014000778 1..3
NEURIMMINFL2014000778 1..3

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome | Orphanet Journal of Rare Diseases | Full Text
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome | Orphanet Journal of Rare Diseases | Full Text

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome. - Abstract - Europe PMC
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome. - Abstract - Europe PMC

D-DEMØ, a distinct phenotype caused by ATP1A3 mutations | Neurology Genetics
D-DEMØ, a distinct phenotype caused by ATP1A3 mutations | Neurology Genetics

A new case of CAPOS/CAOS syndrome
A new case of CAPOS/CAOS syndrome

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome. - Abstract - Europe PMC
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome. - Abstract - Europe PMC

Parents Battle For Cure For Toddler Plagued By Rare Disease - Zenger News
Parents Battle For Cure For Toddler Plagued By Rare Disease - Zenger News

Fever-related ataxia: a case report of CAPOS syndrome | Cerebellum & Ataxias | Full Text
Fever-related ataxia: a case report of CAPOS syndrome | Cerebellum & Ataxias | Full Text

PDF) The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond | Matthew Sweney - Academia.edu
PDF) The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond | Matthew Sweney - Academia.edu

Clinical features of 10 patients from three families with CAPOS syndrome | Download Table
Clinical features of 10 patients from three families with CAPOS syndrome | Download Table

Desperate Parents Launch Campaign For Rare Disease Toddler Treatment ⋆ Madrid Metropolitan
Desperate Parents Launch Campaign For Rare Disease Toddler Treatment ⋆ Madrid Metropolitan

Chronological dynamic changes in cortico-subcortical imbalance of cerebral blood flow in a boy with CAPOS syndrome - ScienceDirect
Chronological dynamic changes in cortico-subcortical imbalance of cerebral blood flow in a boy with CAPOS syndrome - ScienceDirect

PDF) Fever-related ataxia: a case report of CAPOS syndrome
PDF) Fever-related ataxia: a case report of CAPOS syndrome

Fever-related ataxia: a case report of CAPOS syndrome | Cerebellum & Ataxias | Full Text
Fever-related ataxia: a case report of CAPOS syndrome | Cerebellum & Ataxias | Full Text

A new case of CAPOS/CAOS syndrome | Neurología (English Edition)
A new case of CAPOS/CAOS syndrome | Neurología (English Edition)

Compilation of previously published diagnostic criteria for AHC, RDP,... | Download Table
Compilation of previously published diagnostic criteria for AHC, RDP,... | Download Table

RareConnect - 🔎We're looking for people affected by any of... | Facebook
RareConnect - 🔎We're looking for people affected by any of... | Facebook

Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report | Semantic Scholar
Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report | Semantic Scholar

CAPOS syndrome | Semantic Scholar
CAPOS syndrome | Semantic Scholar

Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report - ScienceDirect
Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report - ScienceDirect

Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report | Semantic Scholar
Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report | Semantic Scholar

Frontiers | ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum
Frontiers | ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum

Frontiers | Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype–Phenotype Study and CI Management
Frontiers | Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype–Phenotype Study and CI Management