| 1 |
<i>TSEN54</i> Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation. ( 29410950
)
|
Pacheva I.H....Dimitrova D.
|
2018 |
| 2 |
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. ( 29463858
)
|
KortA1m F....Kutsche K.
|
2018 |
| 3 |
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. ( 29967526
)
|
Wambach J.A....Cole F.S.
|
2018 |
| 4 |
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. ( 29316359
)
|
Bacrot S....Attie-Bitach T.
|
2018 |
| 5 |
What's new in pontocerebellar hypoplasia? An update on genes and subtypes. ( 29903031
)
|
van Dijk T....Poll-The B.T.
|
2018 |
| 6 |
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature. ( 29656927
)
|
Ivanov I....Jordanova A.
|
2018 |
| 7 |
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family. ( 29307788
)
|
Wafik M....Shears D.J.
|
2018 |
| 8 |
Teaching Neuro<i>Images</i>: Figure of 8: The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9). ( 28972112
)
|
Severino M....Striano P.
|
2017 |
| 9 |
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. ( 28092684
)
|
Lardelli R.M....Gleeson J.G.
|
2017 |
| 10 |
Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast. ( 27777260
)
|
Fasken M.B....Van Hoof A.
|
2017 |
| 11 |
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family. ( 28637197
)
|
van Dijk T....Baas F.
|
2017 |
| 12 |
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia. ( 28687512
)
|
Schottmann G....Schuelke M.
|
2017 |
| 13 |
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities. ( 28815207
)
|
Accogli A....Zara F.
|
2017 |
| 14 |
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. ( 28168832
)
|
Marsh A.P....Lockhart P.J.
|
2017 |
| 15 |
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. ( 28823706
)
|
Marin-Valencia I....Gleeson J.G.
|
2017 |
| 16 |
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. ( 28823707
)
|
Ivanova E.L....Chelly J.
|
2017 |
| 17 |
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. ( 28653766
)
|
Braunisch M.C....Haack T.B.
|
2017 |
| 18 |
Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype? ( 27570394
)
|
Samanta D....Willis E.
|
2016 |
| 19 |
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum. ( 27769281
)
|
LA1hl S....GrA1nert S.C.
|
2016 |
| 20 |
Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia. ( 27281532
)
|
Stoll M....Nicholson G.
|
2016 |
| 21 |
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. ( 26805434
)
|
Pavlidou E....Kinali M.
|
2016 |
| 22 |
Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure. ( 26951492
)
|
Dehmel M....von der Hagen M.
|
2016 |
| 23 |
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. ( 27588454
)
|
Breuss M.W....Gleeson J.G.
|
2016 |
| 24 |
Pontocerebellar hypoplasia, malignant hyperthermia, and inappropriate use of secondary references. ( 27370523
)
|
Balbi K.E....Litman R.S.
|
2016 |
| 25 |
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? ( 27683254
)
|
van Dijk T....Poll-The B.T.
|
2016 |
| 26 |
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. ( 27543974
)
|
Wan J....Jen J.C.
|
2016 |
| 27 |
Brain morphometry in Pontocerebellar Hypoplasia type 2. ( 27430971
)
|
Ekert K....KrAogeloh-Mann I.
|
2016 |
| 28 |
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. ( 27392077
)
|
Breuss M.W....Gleeson J.G.
|
2016 |
| 29 |
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. ( 26083569
)
|
Lax N.Z....Taylor R.W.
|
2015 |
| 30 |
Loss of PCLO function underlies pontocerebellar hypoplasia type III. ( 25832664
)
|
Ahmed M.Y....Mochida G.H.
|
2015 |
| 31 |
The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-I^ precursor protein-dependent mechanism. ( 25609612
)
|
Vinograd-Byk H....Levy-Lahad E.
|
2015 |
| 32 |
A combination of chorea, myoclonus, and dystonia in a patient with pontocerebellar hypoplasia type 2: a video case presentation. ( 25837317
)
|
Gupta H.V....Walters W.D.
|
2015 |
| 33 |
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. ( 26701950
)
|
MaraA9-GenAs H....Kara B.
|
2015 |
| 34 |
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. ( 27066553
)
|
Marsh A.P....Lockhart P.J.
|
2015 |
| 35 |
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. ( 25809939
)
|
Li Z....del Gaudio D.
|
2015 |
| 36 |
Natural course of pontocerebellar hypoplasia type 2A. ( 24886362
)
|
SA!nchez-Albisua I....KrAogeloh-Mann I.
|
2014 |
| 37 |
Pontocerebellar hypoplasia. ( 24924738
)
|
Rudnik-SchAPneborn S....Zerres K.
|
2014 |
| 38 |
A familial latea89onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation. ( 24938831
)
|
Qian Y....Chen L.
|
2014 |
| 39 |
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. ( 24524299
)
|
Eggens V.R....Baas F.
|
2014 |
| 40 |
Neuropathologic features of pontocerebellar hypoplasia type 6. ( 25289895
)
|
Joseph J.T....Boycott K.M.
|
2014 |
| 41 |
Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl. ( 24891912
)
|
Jain P....Aneja S.
|
2014 |
| 42 |
Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. ( 23177318
)
|
Zafeiriou D.I....Vargiami E.
|
2013 |
| 43 |
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. ( 23623288
)
|
Nakamura K....Enoki H.
|
2013 |
| 44 |
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations. ( 24047924
)
|
Kastrissianakis K....McShane T.
|
2013 |
| 45 |
Pontocerebellar hypoplasia in extreme prematurity: clinical and neuroimaging findings. ( 23290020
)
|
Zafeiriou D.I....Vargiami E.
|
2013 |
| 46 |
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. ( 23686794
)
|
Siriwardena K....Chitayat D.
|
2013 |
| 47 |
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. ( 22569581
)
|
Cassandrini D....Bertini E.
|
2013 |
| 48 |
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. ( 23284067
)
|
Rudnik-SchAPneborn S....Zerres K.
|
2013 |
| 49 |
The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. ( 22532556
)
|
Sonmez F.M....Kul S.
|
2013 |
| 50 |
Homozygous EXOSC3 mutation c.92Ga89C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma. ( 23883322
)
|
Schwabova J....Seeman P.
|
2013 |
