Pontocerebellar hypoplasia

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

(2014) Veerle RC Eggens et al.   Orphanet Journal of Rare Diseases

XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome

(2013) Komudi Siriwardena et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations

(2013) K. Kastrissianakis et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

(2013) Thomas D. Cushion et al.   BRAIN

Pontocerebellar hypoplasia type 2 and TSEN2: Review of the literature and two novel mutations

(2013) Tatjana Bierhals et al.   European Journal of Medical Genetics

Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2

(2013) Roberta Battini et al.   JOURNAL OF CHILD NEUROLOGY

HomozygousEXOSC3Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma

(2013) Jaroslava Schwabova et al.   JOURNAL OF NEUROGENETICS

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

(2013) Roberta Biancheri et al.   JOURNAL OF NEUROLOGY

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

(2013) Ginevra Zanni et al.   NEUROGENETICS

Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations

(2013) S. Rudnik-Schoneborn et al.   NEUROLOGY

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

(2012) Denise Cassandrini et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Neurology of inherited glycosylation disorders

(2012) Hudson H Freeze et al.   LANCET NEUROLOGY

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

(2012) Ganeshwaran H Mochida et al.   NATURE GENETICS

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

(2012) Jijun Wan et al.   NATURE GENETICS

TSEN54 mutation in a child with pontocerebellar hypoplasia type 1

(2011) Alessandro Simonati et al.   ACTA NEUROPATHOLOGICA

Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?

(2011) Christopher Anderson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pontocerebellar hypoplasia type 3 with tetralogy of Fallot

(2011) Hideo Jinnou et al.   BRAIN & DEVELOPMENT

TSEN54 mutations cause pontocerebellar hypoplasia type 5

(2011) Yasmin Namavar et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Phenotypic spectrum associated with CASK loss-of-function mutations

(2011) U. Moog et al.   JOURNAL OF MEDICAL GENETICS

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

(2011) Yasmin Namavar et al.   Orphanet Journal of Rare Diseases

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

(2010) Orly Agamy et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features

(2010) Julia Rankin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

(2010) Yasmin Namavar et al.   BRAIN

Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies

(2010) D. Cassandrini et al.   NEUROLOGY

Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

(2009) Paul Renbaum et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)

(2009) Kym M. Boycott et al.   JOURNAL OF CHILD NEUROLOGY

Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings

(2009) B. Durmaz et al.   JOURNAL OF NEUROLOGY

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

(2008) Birgit S Budde et al.   NATURE GENETICS