Search Results

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.

• Authors : Ghasemi MR; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, , Tehran, Iran.; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Subjects: Nuclear Proteins* ; Cerebellar Diseases*; Female Pontocerebellar Hypoplasia

• Source: BMC medical genomics [BMC Med Genomics] 2024 Feb 13; Vol. 17 (1), pp. 51. Date of Electronic Publication: 2024 Feb 13.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium:

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Virtual Reality Social Prediction Improvement and Rehabilitation Intensive Training (VR-SPIRIT) for paediatric patients with congenital cerebellar diseases: study protocol of a randomised controlled trial.

• Authors : Butti N; Scientific Institute, IRCCS E. Medea, Bosisio Parini, Lecco, Italy. .; Biffi E

Subjects: Cerebellar Diseases/Cerebellar Diseases/Cerebellar Diseases/*congenital ; Cerebellar Diseases/Cerebellar Diseases/Cerebellar Diseases/*rehabilitation ; Exercise Therapy/Exercise Therapy/Exercise Therapy/*instrumentation

• Source: Trials [Trials] 2020 Jan 14; Vol. 21 (1), pp. 82. Date of Electronic Publication: 2020 Jan 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101263253 Publication Model: Electronic Cited Medium:

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Remote cerebellar hemorrhage following repeated lumbar punctures.

• Authors : Wang HY; Department of Neurology, Jining No.1 People's Hospital, Jining, 272000, Shandong Province, China.; Hu Z

Subjects: Spinal Puncture*/Spinal Puncture*/Spinal Puncture*/adverse effects ; Cerebellar Diseases*/Cerebellar Diseases*/Cerebellar Diseases*/diagnostic imaging ; Cerebellar Diseases*/Cerebellar Diseases*/Cerebellar Diseases*/etiology

• Source: BMC neurology [BMC Neurol] 2023 Jun 08; Vol. 23 (1), pp. 220. Date of Electronic Publication: 2023 Jun 08.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium:

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A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.

• Authors : Nicolle R; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, 75015, France.

Subjects: Cerebellar Diseases* ; Olivopontocerebellar Atrophies*/Olivopontocerebellar Atrophies*/Olivopontocerebellar Atrophies*/genetics ; Arginine-tRNA Ligase*Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia Type 6

• Source: BMC medical genomics [BMC Med Genomics] 2023 Jun 21; Vol. 16 (1), pp. 143. Date of Electronic Publication: 2023 Jun 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium:

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The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.

• Authors : Schröder S; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.; Yigit G

Subjects: Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/diagnosis ; Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/genetics ; Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/pathology Apraxia, oculomotor, Cogan type; Joubert syndrome 4; Agenesis of Cerebellar Vermis

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 May 02; Vol. 18 (1), pp. 101. Date of Electronic Publication: 2023 May 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Cerebellar hemorrhage in a healthy young adult: a case report.

• Authors : Ibrahim AH; Department of Radiology, School of Medical Sciences, Universiti Sains Malaysia, Jalan Raja Perempuan Zainab II, Kubang Kerian, 16150, Kota Bharu, Kelantan, Malaysia.; Department of Radiology, Hospital Universiti Sains Malaysia, Kubang Kerian, Kota Bharu, Kelantan, Malaysia.

Subjects: Cerebellar Diseases*/Cerebellar Diseases*/Cerebellar Diseases*/diagnostic imaging ; Cerebellar Diseases*/Cerebellar Diseases*/Cerebellar Diseases*/complications ; Vascular Malformations*/Vascular Malformations*/Vascular Malformations*/complications

• Source: Journal of medical case reports [J Med Case Rep] 2022 Oct 19; Vol. 16 (1), pp. 380. Date of Electronic Publication: 2022 Oct 19.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium:

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Effect of disturbance stimulation using a split-belt treadmill on a patient with cerebellar ataxia: a case report.

• Authors : Myojin S; Chikamori Rehabilitation Hospital, 2-1 Nijyudaicho, Kochi, 780-0843, Japan.; Yasumura H

Subjects: Cerebellar Ataxia*/Cerebellar Ataxia*/Cerebellar Ataxia*/therapy ; Cerebellar Diseases*; Humans

• Source: Journal of medical case reports [J Med Case Rep] 2023 Feb 19; Vol. 17 (1), pp. 58. Date of Electronic Publication: 2023 Feb 19.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium:

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Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience.

• Authors : Bilge S; Department of Pediatric Neurology, College of Medicine, Çukurova University, Adana, Turkey. .; Mert GG

Subjects: Cerebellar Diseases* ; Nervous System Malformations*/Nervous System Malformations*/Nervous System Malformations*/diagnostic imaging ; Nervous System Malformations*/Nervous System Malformations*/Nervous System Malformations*/genetics Pontocerebellar Hypoplasia

• Source: Italian journal of pediatrics [Ital J Pediatr] 2022 Sep 08; Vol. 48 (1), pp. 169. Date of Electronic Publication: 2022 Sep 08.Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium:

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Cerebellum & ataxias. [electronic resource].

Subjects: Cerebellum -- Periodicals; Cerebellum -- Diseases -- Periodicals; Cerebellar ataxia -- Periodicals

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Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report.

• Authors : Yamada M; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.; Suzuki H

Subjects: Cerebellar Diseases*/Cerebellar Diseases*/Cerebellar Diseases*/diagnosis ; Cerebellar Diseases*/Cerebellar Diseases*/Cerebellar Diseases*/genetics ; Mitochondrial Proteins*/Mitochondrial Proteins*/Mitochondrial Proteins*/genetics Pontocerebellar Hypoplasia

• Source: BMC neurology [BMC Neurol] 2022 Jan 10; Vol. 22 (1), pp. 20. Date of Electronic Publication: 2022 Jan 10.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium:

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