Research Topics
| Basil T DarrasSummaryAffiliation: Harvard University Country: USA Publications
| Collaborators
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Detail Information
Publications
LGMD2I in a North American populationPeter B Kang
Program in Genomics, Children s Hospital Boston and Harvard Medical School, Boston, USA
BMC Musculoskelet Disord 8:115. 2007..There is a marked variation in clinical phenotypes that have been associated with mutations in FKRP, ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy type 2I (LGMD2I)...- Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genesRichard R Bennett
Program in Genomics and Division of Genetics, and The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, Massachusetts, USA
BMC Genet 10:66. 2009..If true, this would allow automation and optimization of the mutation detection process resulting in reduced cost and increased throughput... - Clinical trials in spinal muscular atrophyBasil T Darras
Department of Neurology, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
Curr Opin Pediatr 19:675-9. 2007..Disease severity is modified by the number of centromeric copies of the gene (SMN2) and the quantity of survival motor neuron protein. This has given rise to a number of treatment strategies... - Child neurology residency training in neuromuscular disordersBasil T Darras
Department of Neurology, Children s Hospital Boston, Boston, MA 02115, USA
Semin Pediatr Neurol 18:116-9. 2011..Appropriate settings for inclusion of these skills in child neurology residency programs are suggested... - Characterizing spinal muscular atrophy with electrical impedance myographySeward B Rutkove
Department of Neurology, Beth Israel Deaconess Medical Center, Shapiro 810, 330 Brookline Avenue, Boston, Massachusetts 02215, USA
Muscle Nerve 42:915-21. 2010..These results confirm that EIM can accurately categorize patients with SMA. Because EIM requires no patient effort and is rapid to apply, it may serve a useful role in future SMA clinical trials... - Electroencephalographic correlate of juvenile Huntington's diseaseNicole J Ullrich
Department of Neurology, Children s Hospital, Boston, MA 02115, USA
J Child Neurol 19:541-3. 2004..Huntington's disease should be considered in the differential diagnosis of young children who present with seizures and developmental regression... - Serum transaminase levels in boys with Duchenne and Becker muscular dystrophyHugh J McMillan
Department of Neurology, Children s Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA
Pediatrics 127:e132-6. 2011..High concomitant serum creatine phosphokinase (CPK) levels can point to muscle as the source of high transaminase levels. Nevertheless, clinicians may be reluctant to attribute high transaminase levels to muscle... - Paediatric mononeuritis multiplex: a report of three cases and review of the literatureMonique M Ryan
Department of Neurology, Children s Hospital, Boston, MA, USA
Neuromuscul Disord 13:751-6. 2003..Mononeuritis multiplex is an extremely uncommon form of acquired peripheral neuropathy in childhood. We discuss the differential diagnosis and review previous descriptions of this rare condition... - Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiencyIrina A Anselm
Department of Neurology, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
Pediatr Neurol 35:142-4. 2006..Therefore, close cardiac monitoring is indicated at baseline and during treatment with pressors... - Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8Irina A Anselm
Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
Neurology 70:1642-4. 2008 - Assessing spinal muscular atrophy with quantitative ultrasoundJim S Wu
Department of Radiology, Beth Israel Deaconess Medical Center, Boston, MA, USA
Neurology 75:526-31. 2010..To assess the value of quantitative ultrasound in patients with type 2 and 3 spinal muscular atrophy (SMA)... - Congenital myasthenic syndrome with episodic apneaLeah A Mallory
Department of Medicine, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts, USA
Pediatr Neurol 41:42-5. 2009..Pyridostigmine is the primary therapy for choline acetyltransferase deficiency, but the efficacy of midazolam during this patient's episodes of apnea is interesting, and warrants further study... - Osteoid osteoma presenting with focal neurologic signsGary E Hsich
Department of Neurology, Children's Hospital, Boston, Massachusetts 02115, USA
Pediatr Neurol 26:148-52. 2002..These two patients demonstrate that osteoid osteomas of the lower extremities can present with neurologic signs, and proper diagnosis requires a detailed history and clinical awareness of this phenomenon... - Multifocal slowing of nerve conduction in metachromatic leukodystrophyCarol L Cameron
Department of Neurology, Lahey Clinic, 41 Mall Road, Burlington, Massachusetts 01805, USA
Muscle Nerve 29:531-6. 2004..Although multifocal NCV slowing in a child with polyneuropathy is seen most commonly in acquired conditions, a hereditary process, including MLD, cannot always be excluded in this setting... - Motor variant of chronic inflammatory demyelinating polyneuropathy in a childDurriyah D Sinno
Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon
Pediatr Neurol 38:426-9. 2008.... - An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patientsJessica M O'Hagen
Columbia University, New York, NY, USA
Neuromuscul Disord 17:693-7. 2007..To develop and evaluate an expanded version of the Hammersmith Functional Motor Scale allowing for evaluation of ambulatory SMA patients... - Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndromeR Rodney Howell
Department of Pediatrics, Miller School of Medicine, University of Miami, Miami, FL 33101, USA
Genet Med 8:289-96. 2006..This article presents a unified view on the optimal approach to the accurate diagnosis of Pompe disease and to its recognition as one of the possible and treatable causes of floppy baby syndrome... - Inherited myopathies and muscular dystrophiesMichael Cardamone
Neurosciences Department, Royal Children s Hospital, Victoria, Australia
Semin Neurol 28:250-9. 2008..Treatment is focused on symptomatic management and rehabilitation, and monitoring for disease complications...