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Dive into the research topics where Claudia Arberas is active.

Publication


Featured researches published by Claudia Arberas.


Muscle & Nerve | 1997

Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene.

Victor Ionasescu; Charles Searby; Rebecca Ionasescu; Ricardo Reisin; Victor Ruggieri; Claudia Arberas

A 27‐year‐old man with negative family history and both parents with normal neurological evaluation and motor nerve conduction velocities (MNCVs) showed onset of severe weakness of feet at 4 years of age. Subsequently he developed left equinovarus deformity, thoracic scoliosis, ulnar nerve enlargement, areflexia, distal hypesthesia and slowing of MNCVs for median and ulnar nerves (15–25 m/sec). Molecular genetic studies showed deletion of one nucleotide (G330) (codon 94) in exon 3 of the PMP22 gene associated with frameshift mutation.


Revista De Neurologia | 2003

Fenotipos conductuales. Patrones neuropsicológicos biológicamente determinados

Víctor Luis Ruggieri; Claudia Arberas


Medicina-buenos Aires | 2007

Trastornos generalizados del desarrollo: Aspectos clínicos y genéticos

Victor Ruggieri; Claudia Arberas


Medicina-buenos Aires | 2009

Síndromes genéticos reconocibles en el período neonatal

Victor Ruggieri; Claudia Arberas


Medicina-buenos Aires | 2013

Autismo y epigenética: Un modelo de explicación para la comprensión de la génesis en los trastornos del espectro autista

Claudia Arberas; Victor Ruggieri


Rev. Hosp. Niños B.Aires | 2005

Síndrome de prader willi

Claudia Arberas; María José Guillamondegui; María del Carmen Fernández; Ana María Tello


Rev. Hosp. Niños B.Aires | 2000

Anomalía de Poland

María del Carmen Fernández; Claudia Arberas; Pablo Lapunzina; Ana María Tello


Rev. Hosp. Niños B.Aires | 1999

Síndrome de Williams: Síndrome de Williams-Beuren o hipercalcemia idiopática infantil

Claudia Arberas; María del Carmen Fernández; Pablo Lapunzina; Ernesto Goldschmidt; María Magdalena de Elizalde; Ana María Tello


Revue Neurologique | 2016

Autismo en las mujeres: aspectos clínicos, neurobiológicos y genéticos

Victor Ruggieri; Claudia Arberas


Revista De Neurologia | 2013

Fenómenos paroxísticos no epilépticos motores en vigilia en la infancia

Victor Ruggieri; Claudia Arberas

Collaboration


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Ana María Tello

University of Buenos Aires

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Victor Ruggieri

Boston Children's Hospital

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Pablo Lapunzina

University of Buenos Aires

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Charles Searby

University of Iowa Hospitals and Clinics

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J J Heinrich

Boston Children's Hospital

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Liliana Bezrodnik

Boston Children's Hospital

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Rebecca Ionasescu

University of Iowa Hospitals and Clinics

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Ricardo Reisin

Boston Children's Hospital

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Victor Ionasescu

University of Iowa Hospitals and Clinics

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