Pontocerebellar hypoplasia

Pontocerebellar hypoplasias are a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. Here is the latest research.

August 30, 2020
Open Access

Cytogenetic and Molecular Study of an Adult Sclerosing Rhabdomyosarcoma of the Extremity: MYOD1 -mutation and Clonal Evolution

Cancer Genomics & Proteomics
Ludmila GorunovaIoannis Panagopoulos
June 27, 2020
Case Report
Open Access

Intrafamilial phenotypic variation in spinocerebellar ataxia type 23

Cerebellum & Ataxias
Shunichi SatohKunihiro Yoshida
August 3, 2020

Dose dependent cerebellar atrophy in glioma patients after radio(chemo)therapy

Radiotherapy and Oncology : Journal of the European Society for Therapeutic Radiology and Oncology
Felix RaschkeEsther G C Troost
July 10, 2020
Open Access

A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons

PLoS Genetics
Derrick J MortonAnita H Corbett
September 22, 2020
Open Access

JC virus granule cell neuronopathy associated with Ruxolitinib: A case report and review of the literature

ENeurologicalSci
Kentaro NakayamaHirofumi Kusaka
May 16, 2020

Pontocerebellar Hypoplasia: a Pattern Recognition Approach

The Cerebellum
Christina T RüschEugen Boltshauser
July 10, 2020

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Epilepsia
Marina TrivisanoNicola Specchio
September 16, 2020

Clinical features, prognostic factors, and antibody effects in anti-mGluR1 encephalitis

Neurology
Marianna SpatolaJosep Dalmau
June 24, 2020
Open Access

Defining the phenotypical spectrum associated with variants in TUBB2A

Journal of Medical Genetics
Stefanie BrockKatrien Stouffs
August 23, 2020

NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease

Journal of Neuropathology and Experimental Neurology
Ivana JedlickovaJakub Sikora
May 10, 2020
Open Access

Hippocampal α-synuclein pathology correlates with memory impairment in multiple system atrophy

Brain : a Journal of Neurology
Yasuo MikiJanice L Holton
June 3, 2020

Novel compound heterozygous mutation in NPC1 gene cause Niemann-Pick disease type C with juvenile onset

Journal of Genetics
Maria Cristina CostanzoSebastiano Antonino Musumeci
July 23, 2020
Open Access

A Comprehensive Approach to Disentangle the Effect of Cerebellar Damage on Physical Disability in Multiple Sclerosis

Frontiers in Neurology
Serena RuggieriPatrizia Pantano
July 6, 2020

A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2

European Journal of Medical Genetics
Katalin L M L HetzeltChristiane Zweier

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