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Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

Orphanet journal of rare diseases, 2012-09, Vol.7 (1), p.68-68

2012

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The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population

Clinical genetics, 2024-07, Vol.106 (1), p.82-89

2024

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Disorders of histone methylation: Molecular basis and clinical syndromes

Clinical genetics, 2022-09, Vol.102 (3), p.169-181

2022

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WIPI proteins: Biological functions and related syndromes

Frontiers in molecular neuroscience, 2022-09, Vol.15, p.1011918-1011918

2022

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MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

Human mutation, 2018-04, Vol.39 (4), p.461-470

2018

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LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome

Clinical genetics, 2019-02, Vol.95 (2), p.325-328

2019

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Mitochondrial DNA replication: clinical syndromes

Essays in biochemistry, 2018-07, Vol.62 (3), p.297-308

2018

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Carnitine Inborn Errors of Metabolism

Molecules (Basel, Switzerland), 2019-09, Vol.24 (18), p.3251

2019

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Disorders of carnitine biosynthesis and transport

Molecular genetics and metabolism, 2015-11, Vol.116 (3), p.107-112

2015

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Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases

Molecular genetics and metabolism, 2018-12, Vol.125 (4), p.315-321

2018

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MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

Molecular genetics and metabolism, 2015-09, Vol.116 (1-2), p.4-12

2015

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Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder

Clinical genetics, 2024-06, Vol.105 (6), p.620-629

2024

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A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features

Clinical genetics, 2022-05, Vol.101 (5-6), p.565-570

2022

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West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations

Epileptic disorders, 2018-10, Vol.20 (5), p.401-412

2018

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El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype

Clinical genetics, 2022-05, Vol.101 (5-6), p.530-540

2022

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On the phenotypic spectrum of serine biosynthesis defects

Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.373-381

2016

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VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features

Clinical genetics, 2020-04, Vol.97 (4), p.644-648

2020

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Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy

American journal of medical genetics. Part A, 2023-03, Vol.191 (3), p.776-785

2023

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Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features

Human mutation, 2020-07, Vol.41 (7), p.1238-1249

2020

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Mitochondrial Cardiomyopathies

Frontiers in cardiovascular medicine, 2016-07, Vol.3, p.25-25

2016

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Therapies for mitochondrial diseases and current clinical trials

Molecular genetics and metabolism, 2017-11, Vol.122 (3), p.1-9

2017

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Mitochondrial Fission and Fusion: Molecular Mechanisms, Biological Functions, and Related Disorders

Membranes (Basel), 2022-09, Vol.12 (9), p.893

2022

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The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3222-3226

2016

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Clinical trials in mitochondrial disorders, an update

Molecular genetics and metabolism, 2020-09, Vol.131 (1-2), p.1-13

2020

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Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population

Disorders of histone methylation: Molecular basis and clinical syndromes

WIPI proteins: Biological functions and related syndromes

MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome

Mitochondrial DNA replication: clinical syndromes

Carnitine Inborn Errors of Metabolism

Disorders of carnitine biosynthesis and transport

Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder

A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features

West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations

El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype

On the phenotypic spectrum of serine biosynthesis defects

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features

Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy

Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features

Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies

Mitochondrial Cardiomyopathies

Therapies for mitochondrial diseases and current clinical trials

Mitochondrial Fission and Fusion: Molecular Mechanisms, Biological Functions, and Related Disorders

The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients

Clinical trials in mitochondrial disorders, an update

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