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Mitochondria‐associated membrane collapse is a common pathomechanism in SIGMAR1‐ and SOD1‐linked ALS

EMBO molecular medicine, 2016-12, Vol.8 (12), p.1421-1437

2016

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Transverse Myelitis and Guillain-Barré Syndrome Associated with Cat-Scratch Disease, Texas, USA, 2011

Emerging infectious diseases, 2018-09, Vol.24 (9), p.1754-1755

2018

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Sural sparing pattern discriminates Guillain-Barré syndrome from its mimics

Muscle & nerve, 2014-11, Vol.50 (5), p.780-784

2014

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A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration

Molecular genetics & genomic medicine, 2021-07, Vol.9 (7), p.e1706-n/a

2021

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Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

Nature genetics, 2004-04, Vol.36 (4), p.361-369

2004

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Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency

Molecular genetics and metabolism, 2017-11, Vol.122 (3), p.117-121

2017

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Identification of a novel microdeletion causative of Nance‐Horan syndrome

Molecular genetics & genomic medicine, 2022-03, Vol.10 (3), p.e1879-n/a

2022

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Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation

Annals of neurology, 2002-02, Vol.51 (2), p.190-201

2002

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Office of Medical Education: Opportunities for Trainees to Engage and Lead in Curricular Innovation and Reform

MedEdPORTAL, 2021-03, Vol.17, p.11112-11112

2021

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Strategies to Support Social Justice Activism in Medical School

Academic medicine, 2022-12, Vol.97 (12), p.1869-1869

2022

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CMT4A: Identification of a Hispanic GDAP1 founder mutation

Annals of neurology, 2003-03, Vol.53 (3), p.400-405

2003

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Mercury-induced Neurotoxicity and Neuroinflammation: A Role for Heavy Metal Intoxication in the Pathogenesis of Autoimmune Diseases of the Nervous System (912)

Neurology, 2020-04, Vol.94 (15_supplement)

2020

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eP182 - A de novo case of autosomal dominant mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)

Molecular genetics and metabolism, 2021-04, Vol.132, p.S119-S120

2021

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A de novo case of autosomal dominant mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)

Molecular genetics and metabolism, 2021-04, Vol.132, p.S119-S120

2021

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Hispanic Identity and Its Inclusion in the Race Discrimination Discourse in the United States

Academic medicine, 2021-06, Vol.96 (6), p.788-791

2021

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Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models

The Journal of clinical investigation, 2019-12, Vol.129 (12), p.5568-5583

2019

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Dysferlinopathy Presenting as Rhabdomyolysis and Acute Renal Failure

Journal of child neurology, 2013-04, Vol.28 (4), p.502-505

2013

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Letter; Are Students Who do not Complete their Medical School Education Abandoned? Is More Help Needed?

The open medical education journal, 2013-05, Vol.6 (1), p.22-28

Mancias, Pedro

2013

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Does Short‐Term Antiepileptic Drug Treatment in Children Result in Cognitive or Behavioral Changes?

Epilepsia (Copenhagen), 1998-10, Vol.39 (10), p.1064-1069

1998

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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Genetics in medicine, 2017-01, Vol.19 (1), p.45-52

2017

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Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions

Journal of child neurology, 2019-03, Vol.34 (4), p.177-183

2019

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Mitochondria‐associated membrane collapse is a common pathomechanism in SIGMAR 1 ‐ and SOD 1 ‐linked ALS

EMBO molecular medicine, 2016-12, Vol.8 (12), p.1421-1437

2016

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Cerebral Sinovenous Thrombosis Associated With Iron Deficiency Anemia Secondary to Severe Menorrhagia: A Case Report

Journal of child neurology, 2014-09, Vol.29 (9), p.NP62-NP64

2014

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Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

Nature genetics, 1998-04, Vol.18 (4), p.382-384

1998

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Mitochondria‐associated membrane collapse is a common pathomechanism in SIGMAR1‐ and SOD1‐linked ALS

Transverse Myelitis and Guillain-Barré Syndrome Associated with Cat-Scratch Disease, Texas, USA, 2011

Sural sparing pattern discriminates Guillain-Barré syndrome from its mimics

A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency

Identification of a novel microdeletion causative of Nance‐Horan syndrome

Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation

Office of Medical Education: Opportunities for Trainees to Engage and Lead in Curricular Innovation and Reform

Strategies to Support Social Justice Activism in Medical School

CMT4A: Identification of a Hispanic GDAP1 founder mutation

Mercury-induced Neurotoxicity and Neuroinflammation: A Role for Heavy Metal Intoxication in the Pathogenesis of Autoimmune Diseases of the Nervous System (912)

eP182 - A de novo case of autosomal dominant mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)

A de novo case of autosomal dominant mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)

Hispanic Identity and Its Inclusion in the Race Discrimination Discourse in the United States

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Dysferlinopathy Presenting as Rhabdomyolysis and Acute Renal Failure

Letter; Are Students Who do not Complete their Medical School Education Abandoned? Is More Help Needed?

Does Short‐Term Antiepileptic Drug Treatment in Children Result in Cognitive or Behavioral Changes?

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions

Mitochondria‐associated membrane collapse is a common pathomechanism in SIGMAR 1 ‐ and SOD 1 ‐linked ALS

Cerebral Sinovenous Thrombosis Associated With Iron Deficiency Anemia Secondary to Severe Menorrhagia: A Case Report

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

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