Sylvie Minh-Picker

Berlin, BE, Germany

Last Updated: 09/26/2026

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Found 11 publications

PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients.

PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients.

Journal: Cerebellum (London, England)
Published: September 23, 2022

Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.

Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.

Journal: Human molecular genetics
Published: February 08, 2021

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Journal: Neurogenetics
Published: November 28, 2017

Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.

Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.

Journal: American journal of medical genetics. Part A
Published: October 11, 2017

Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.

Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Published: July 06, 2017

Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature.

Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature.

Journal: Journal of child neurology
Published: February 15, 2017

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.

Journal: Mitochondrion
Published: December 24, 2016

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

Journal: Orphanet journal of rare diseases
Published: March 02, 2016

Genetic causes of MCPH in consanguineous Pakistani families.

Genetic causes of MCPH in consanguineous Pakistani families.

Journal: Clinical genetics
Published: July 23, 2015

Redefining the MED13L syndrome.

Redefining the MED13L syndrome.

Journal: European journal of human genetics : EJHG
Published: July 23, 2014

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

Journal: Orphanet journal of rare diseases
Published: May 08, 2014
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Last Updated: 09/26/2026