long term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the fgf14 gaa expansion

Original title: “Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion.”

continuous glucose monitoring driven personalization of cornstarch therapy in glycogen storage disease a retrospective analysis

Original title: “Continuous Glucose Monitoring-Driven Personalization of Cornstarch Therapy in Glycogen Storage Disease: A Retrospective Analysis.”

autoantibody reactome analysis reveals novel biomarkers for idiopathic retroperitoneal fibrosis

Original title: “Autoantibody reactome analysis reveals novel biomarkers for idiopathic retroperitoneal fibrosis.”

left hepatectomy for chronic biopsy induced intrahepatic arterioportal fistula with aneurysmal degeneration

Original title: “Left hepatectomy for chronic biopsy-induced intrahepatic arterioportal fistula with aneurysmal degeneration.”

apical takotsubo syndrome after elective stenting of the left anterior descending artery

Original title: “Apical Takotsubo Syndrome After Elective Stenting of the Left Anterior Descending Artery.”

clinical landscape of hif2 inhibitors in oncology

Original title: “The clinical landscape of HIF2α inhibitors in oncology.”

more than skin deep primary inoculation with mycobacterium tuberculosis as an occupational hazard

Original title: “More than Skin Deep: Primary Inoculation with Mycobacterium tuberculosis as an Occupational Hazard.”

neuromyelitis optica spectrum disorder in a patient with neurofibromatosis type 1 mimicking spinal cord infarction

Original title: “Neuromyelitis optica spectrum disorder in a patient with neurofibromatosis type 1 mimicking spinal cord infarction.”

family studies in gaucher disease a key resource for early diagnosis and personalized treatment strategies

Original title: “Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies.”

rigorous genetic diagnosis review in natural history studies

Original title: “Rigorous genetic diagnosis review in natural history studies.”

tacrolimus induced plexopathy

Original title: “Tacrolimus-induced plexopathy.”

two cases of diffuse alveolar haemorrhage attributable to human metapneumovirus infection a case report

Original title: “Two Cases of Diffuse Alveolar Haemorrhage Attributable to Human Metapneumovirus Infection: A Case Report.”

rare presentation of serous effusions in pediatric acute myeloid leukemia insights from a retrospective case series

Original title: “Rare presentation of serous effusions in pediatric acute myeloid leukemia: insights from a retrospective case series.”

staged surgical management of a colosplenic fistula caused by locally advanced splenic flexure adenocarcinoma

Original title: “Staged Surgical Management of a Colosplenic Fistula Caused by Locally Advanced Splenic-Flexure Adenocarcinoma.”

sinonasal cholesteatoma presenting within the maxillary sinus a case report

Original title: “Sinonasal Cholesteatoma Presenting Within the Maxillary Sinus: A Case Report.”

pituitary metastasis as the first sign of distant spread in mandibular squamous cell carcinoma

Original title: “Pituitary metastasis as the first sign of distant spread in mandibular squamous cell carcinoma.”

roles of insulin like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome

Original title: “Roles of insulin-like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome.”

clear cell sarcoma tumor of the finger with an unusual presentation misdiagnosed as a glomus tumor in an adolescent patient a case report

Original title: “A clear cell sarcoma tumor of the finger with an unusual presentation misdiagnosed as a glomus tumor in an adolescent patient: A case report.”

family quality of life in the context of rett syndrome insights from brazilian families

Original title: “Family quality of life in the context of Rett syndrome: insights from Brazilian families.”