• <em>PNPLA6</em> Disorders
• <em>PNPLA6</em> disorders: what's in a name?
• A case of spinocerebellar ataxia type 3 (SCA3) associated with isolated ACTH deficiency
• A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhauser syndrome
• A new family of Boucher-Neuhauser syndrome: coexistence of Holmes type cerebellar atrophy, hypogonadotropic hypogonadism and retinochoroidal degeneration: case reports and review of literature
• A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhauser syndrome)
• A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher-Neuhauser syndrome
• A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome
• A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia
• A patient with cerebellar ataxia, hypogonadotropic hypogonadism and vitelliform macular dystrophy: Boucher-Neuhauser syndrome
• Are hypersegmented neutrophils a characteristic of Boucher-Neuhauser syndrome?
• Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhauser syndrome due to PNPLA6 mutations
• Ataxia-hypogonadism syndrome (Boucher-Neuhauser syndrome)
• Boucher Neuhauser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6
• Boucher Neuhauser Syndrome in Twins: A Rare and Unusual Cause of Cerebellar Ataxia
• Boucher-Neuhauser syndrome
• Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia
• Boucher-Neuhauser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature
• Boucher-Neuhauser Syndrome: Chorioretinal Changes in a Single Case Over Time
• CHORIORETINAL CHANGES IN A GENETICALLY CONFIRMED CASE OF BOUCHER-NEUHAUSER SYNDROME
• Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C&gt;G (p.Ser1175Cys)) variant in <em>PNPLA6</em> gene
• Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene
• Complex movement disorders in a sporadic Boucher-Neuhauser Syndrome: Phenotypic manifestations beyond the triad
• Compound heterozygous PNPLA6 mutations cause Boucher-Neuhauser syndrome with late-onset ataxia
• Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants
• Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in <em>PNPLA6</em> mimicking choroideremia
• Detailed retinal phenotype of Boucher-Neuhauser syndrome associated with mutations in PNPLA6 mimicking choroideremia
• Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias
• Endocrine disorders and the cerebellum: from neurodevelopmental injury to late-onset ataxia
• Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?
• Hypogonadotropic hypogonadism discovered in a patient with cerebellar ataxia
• Identification of Novel Compound Heterozygous Variants of the <em>PNPLA6</em> Gene in Boucher-Neuhäuser Syndrome
• Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher-Neuhauser Syndrome
• Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids
• Late-onset Boucher-Neuhauser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature
• Movement Disorders Associated with Hypogonadism
• Multifaceted and Age-Dependent Phenotypes Associated With Biallelic <em>PNPLA6</em> Gene Variants: Eight Novel Cases and Review of the Literature
• Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders
• Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes
• Neuropsychological assessment of Boucher-Neuhauser syndrome: A case report
• Novel mutations in the PNPLA6 gene in Boucher-Neuhauser syndrome
• Novel variants in PNPLA6 causing syndromic retinal dystrophy
• Ophthalmologic findings in a patient with cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy
• Ophthalmologic findings of Boucher-Neuhauser syndrome
• Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies
• PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
• Prominent expression of spinocerebellar ataxia type-1 (SCA1) gene encoding ataxin-1 in LH-producing cells, LbetaT2
• Severe chorioretinal atrophy in Boucher-Neuhauser syndrome
• Significance of neuroimaging in the diagnosis of Boucher-Neuhauser syndrome
• Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhauser syndrome)
• The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview
• The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in <em>PNPLA6</em>
• The First Korean Family With Boucher-Neuhauser Syndrome Carrying a Novel Mutation in PNPLA6
• The gonadotropin-releasing hormone type I receptor is expressed in the mouse cerebellum
• Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia
• Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome