Basil T Darras

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. doi request reprint Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
    I A Anselm
    Department of Neurology, Fegan 11, Children s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA
    Neurology 73:400-1. 2009
  2. doi request reprint Spinal muscular atrophies
    Basil T Darras
    Division of Clinical Neurology, Department of Neurology, Boston Children s Hospital, 300 Longwood Avenue, Fegan 11, Boston, MA 02115, USA Electronic address
    Pediatr Clin North Am 62:743-66. 2015
  3. pmc Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy
    Heather M McLaughlin
    Laboratory for Molecular Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA
    BMC Med Genet 14:68. 2013
  4. ncbi request reprint Clinical trials in spinal muscular atrophy
    Basil T Darras
    Department of Neurology, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
    Curr Opin Pediatr 19:675-9. 2007
  5. doi request reprint Child neurology residency training in neuromuscular disorders
    Basil T Darras
    Department of Neurology, Children s Hospital Boston, Boston, MA 02115, USA
    Semin Pediatr Neurol 18:116-9. 2011
  6. pmc The motor neuron response to SMN1 deficiency in spinal muscular atrophy
    Peter B Kang
    Department of Neurology, Boston Children s Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA
    Muscle Nerve 49:636-44. 2014
  7. pmc Prospective cohort study of spinal muscular atrophy types 2 and 3
    Petra Kaufmann
    Department of Neurology, Columbia University, New York, USA
    Neurology 79:1889-97. 2012
  8. pmc Loss of electrical anisotropy is an unrecognized feature of dystrophic muscle that may serve as a convenient index of disease status
    Seward B Rutkove
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, 330 Brookline Ave, Boston, MA 02215, USA Electronic address
    Clin Neurophysiol 127:3546-3551. 2016
  9. pmc Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2
    Satomi Mitsuhashi
    Department of Neurology, Boston Children s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Neuromuscul Disord 23:975-80. 2013
  10. doi request reprint Rasch analysis of the Pediatric Evaluation of Disability Inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy
    Amy Pasternak
    Department of Physical Therapy and Occupational Therapy Services, 300 Longwood Avenue, Boston Children s Hospital, Boston, Massachusetts, USA
    Muscle Nerve 54:1097-1107. 2016

Collaborators

Detail Information

Publications55

  1. doi request reprint Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
    I A Anselm
    Department of Neurology, Fegan 11, Children s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA
    Neurology 73:400-1. 2009
  2. doi request reprint Spinal muscular atrophies
    Basil T Darras
    Division of Clinical Neurology, Department of Neurology, Boston Children s Hospital, 300 Longwood Avenue, Fegan 11, Boston, MA 02115, USA Electronic address
    Pediatr Clin North Am 62:743-66. 2015
    ..Advances in the multidisciplinary supportive care of children with SMA also offer hope for improved life expectancy and quality of life. ..
  3. pmc Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy
    Heather M McLaughlin
    Laboratory for Molecular Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA
    BMC Med Genet 14:68. 2013
    ..To date, only ~50 disease-associated variants have been described, and the majority of these lead to dominant-negative effects. However, the complete genotypic spectrum of desminopathy is not well established...
  4. ncbi request reprint Clinical trials in spinal muscular atrophy
    Basil 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...
  5. doi request reprint Child neurology residency training in neuromuscular disorders
    Basil 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...
  6. pmc The motor neuron response to SMN1 deficiency in spinal muscular atrophy
    Peter B Kang
    Department of Neurology, Boston Children s Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA
    Muscle Nerve 49:636-44. 2014
    ..The purpose of this study was to measure and analyze motor unit number estimation (MUNE) values longitudinally in spinal muscular atrophy (SMA)...
  7. pmc Prospective cohort study of spinal muscular atrophy types 2 and 3
    Petra Kaufmann
    Department of Neurology, Columbia University, New York, USA
    Neurology 79:1889-97. 2012
    ..To characterize the natural history of spinal muscular atrophy type 2 and type 3 (SMA 2/3) beyond 1 year and to report data on clinical and biological outcomes for use in trial planning...
  8. pmc Loss of electrical anisotropy is an unrecognized feature of dystrophic muscle that may serve as a convenient index of disease status
    Seward B Rutkove
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, 330 Brookline Ave, Boston, MA 02215, USA Electronic address
    Clin Neurophysiol 127:3546-3551. 2016
    ....
  9. pmc Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2
    Satomi Mitsuhashi
    Department of Neurology, Boston Children s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Neuromuscul Disord 23:975-80. 2013
    ..Given the previous report of SMCHD1 mutations in FSHD2 and the clinical presentations consistent with the FSHD phenotype, we conclude that the SMCHD1 mutation is the likely cause of the disease in this family...
  10. doi request reprint Rasch analysis of the Pediatric Evaluation of Disability Inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy
    Amy Pasternak
    Department of Physical Therapy and Occupational Therapy Services, 300 Longwood Avenue, Boston Children s Hospital, Boston, Massachusetts, USA
    Muscle Nerve 54:1097-1107. 2016
    ..In this study we evaluated the suitability of a caregiver-reported functional measure, the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test (PEDI-CAT), for children and young adults with spinal muscular atrophy (SMA)...
  11. pmc Quantitative muscle ultrasound in Duchenne muscular dystrophy: a comparison of techniques
    Irina Shklyar
    The Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
    Muscle Nerve 51:207-13. 2015
    ....
  12. doi request reprint Clinical correlates of Charcot-Marie-Tooth disease in patients with pes cavus deformities
    Ioannis Karakis
    Department of Neurology, Emory University School of Medicine, Woodruff Memorial Research Building, 101 Woodruff Circle, Atlanta, Georgia 30322, USA
    Muscle Nerve 47:488-92. 2013
    ..Given its association with Charcot-Marie-Tooth disease (CMT), pes cavus is a common reason for referral to a neurologist. We investigated clinical features that may predict CMT in children with pes cavus...
  13. pmc Congenital myasthenic syndrome with episodic apnea
    Leah 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...
  14. pmc Electrical impedance myography for assessment of Duchenne muscular dystrophy
    Seward B Rutkove
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, 330 Brookline Ave, Boston, MA, 02215
    Ann Neurol . 2017
    ..In this study, we evaluated whether electrical impedance myography (EIM) could serve this purpose...
  15. pmc Optimizing electrical impedance myography measurements by using a multifrequency ratio: a study in Duchenne muscular dystrophy
    Stefan Schwartz
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, United States
    Clin Neurophysiol 126:202-8. 2015
    ..Exploiting the differing frequency dependences of muscle and fat, we assessed a 2-frequency EIM phase ratio in Duchenne muscular dystrophy (DMD) boys...
  16. doi request reprint The spectrum of myotonic and myopathic disorders in a pediatric electromyography laboratory over 12 years
    Disha U Shah
    Electromyography Laboratory, Department of Neurology, Boston Children s Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Pediatr Neurol 47:97-100. 2012
    ..The presence or absence of concurrent myopathic motor unit potentials may help narrow the differential diagnosis further...
  17. doi request reprint Electrical impedance myography in spinal muscular atrophy: a longitudinal study
    Seward B Rutkove
    Department of Neurology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, Massachusetts 02215, USA
    Muscle Nerve 45:642-7. 2012
    ..In this study, we evaluate whether electrical impedance myography (EIM) can detect disease progression in SMA compared with a group of healthy children of similar age...
  18. pmc Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy
    Peter B Kang
    Program in Genomics and Division of Genetics, Children s Hospital Boston and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts 02115, USA
    Muscle Nerve 41:746-50. 2010
    ..This case suggests that umbilical cord-derived hematopoietic stem cell transplantation will not be efficacious in the therapy of DMD without additional interventions that induce engraftment of donor cells in skeletal muscle...
  19. doi request reprint Electrophysiologic features of fibular neuropathy in childhood and adolescence
    Ioannis Karakis
    Department of Neurology, Boston Children s Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Muscle Nerve . 2016
    ..We studied patterns of nerve injury in pediatric common fibular (peroneal) neuropathy (CFN)...
  20. ncbi request reprint Paediatric mononeuritis multiplex: a report of three cases and review of the literature
    Monique 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...
  21. ncbi request reprint Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency
    Irina 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...
  22. doi request reprint Electrophysiologic evidence for anterior horn cell disease in amyoplasia
    John N Gaitanis
    Department of Neurology, Hasbro Children s Hospital, Brown Medical School, Providence, Rhode Island, USA
    Pediatr Neurol 43:142-7. 2010
    ..A careful segmental needle electromyography study revealed variable involvement at different myotomes. We hypothesize that the anterior horn cell may represent the site of disease in a subset of children with amyoplasia...
  23. doi request reprint Pediatric monomelic amyotrophy: evidence for poliomyelitis in vulnerable populations
    Hugh J McMillan
    Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
    Muscle Nerve 40:860-3. 2009
    ..The cause of amyotrophy in each case is most consistent with prior: (1) wildtype poliovirus myelitis; (2) "polio-like" virus myelitis, or (3) vaccine associated paralytic poliomyelitis...
  24. pmc Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
    Vandana A Gupta
    Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Am J Hum Genet 93:1108-17. 2013
    ..These studies expand the genetic heterogeneity of NM and implicate a critical role of BTB-Kelch family members in maintenance of sarcomeric integrity in NM. ..
  25. doi request reprint Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy
    Hugh 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...
  26. doi request reprint Pediatric sciatic neuropathy associated with neoplasms
    Hugh J McMillan
    Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
    Muscle Nerve 43:183-8. 2011
    ..Three children died from the cancer or complications of treatment. One child with perineurioma remained clinically stable, and two children improved after treatment of their neoplasm...
  27. pmc Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year
    Petra Kaufmann
    Department of Neurology, Columbia University, 710 W 168th St, 2nd Floor, New York, NY 10032, USA
    Arch Neurol 68:779-86. 2011
    ..To characterize the short-term course of spinal muscular atrophy (SMA) in a genetically and clinically well-defined cohort of patients with SMA...
  28. pmc Composite biomarkers for assessing Duchenne muscular dystrophy: an initial assessment
    Irina Shklyar
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts
    Pediatr Neurol 52:202-5. 2015
    ....
  29. pmc Inter-session reliability of electrical impedance myography in children in a clinical trial setting
    Tom R Geisbush
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA
    Clin Neurophysiol 126:1790-6. 2015
    ..Here we assessed the reproducibility of electrical impedance myography (EIM) in children by comparing data obtained by different evaluators on separate days...
  30. pmc Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes
    Richard 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...
  31. pmc Machine learning algorithms to classify spinal muscular atrophy subtypes
    Tuhin Srivastava
    Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA, USA
    Neurology 79:358-64. 2012
    ....
  32. doi request reprint Referral and diagnostic trends in pediatric electromyography in the molecular era
    Ioannis Karakis
    Department of Neurology, Boston Children s Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA Department of Neurology, Lahey Clinic, Burlington, Massachusetts, USA Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA
    Muscle Nerve 50:244-9. 2014
    ..Major advances in genetic analysis and neuroimaging have modified the traditional diagnostic approach for neuromuscular disorders. The purpose of this study was to investigate the role of electromyography (EMG) in the molecular era...
  33. pmc Cross-sectional evaluation of electrical impedance myography and quantitative ultrasound for the assessment of Duchenne muscular dystrophy in a clinical trial setting
    Seward B Rutkove
    Division of Neuromuscular Diseases, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts Electronic address
    Pediatr Neurol 51:88-92. 2014
    ..Both techniques have potential to serve as useful biomarkers in clinical trials in Duchenne muscular dystrophy. However, their comparative sensitivity to disease status and how they relate to one another are unknown...
  34. ncbi request reprint Neuromuscular problems of the critically ill neonate and child
    Basil T Darras
    Department of Neurology, Children s Hospital Boston, Boston, MA, USA
    Semin Pediatr Neurol 11:147-68. 2004
    ..Case studies suggest the wide range of presentations these disorders may make to the pediatrician or pediatric neurologist...
  35. doi request reprint Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8
    Irina A Anselm
    Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Neurology 70:1642-4. 2008
  36. doi request reprint The longitudinal course of cardiomyopathy in Friedreich's ataxia during childhood
    Alaina Kipps
    Department of Cardiology, Boston, MA 02115, USA
    Pediatr Cardiol 30:306-10. 2009
    ..This study aimed to define the longitudinal course of the cardiac abnormalities with FA diagnosed during childhood and to correlate the presence of cardiomyopathy with clinical and genetic factors...
  37. doi request reprint Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents
    Wendy K M Liew
    Department of Neurology, Boston Children s Hospital and Harvard Medical School, Boston, MA Neurology Service, Department of Pediatrics, KK Women s and Children s Hospital, Singapore
    J Pediatr 178:227-232. 2016
    ..To characterize the longitudinal clinical and electrophysiological patterns of thalidomide neuropathy in children and adolescents...
  38. pmc Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy
    Claudia A Chiriboga
    From the Departments of Neurology C A C, J M, D C D and Rehabilitative and Regenerative Medicine J M, Columbia University, New York, NY Department of Neurology K J S, University of Utah, Salt Lake City Department of Neurology B T D, Boston Children s Hospital, Boston, MA Department of Pediatrics S T I, University of Texas Southwestern Medical School, Dallas and Ionis Pharmaceuticals, Inc formerly Isis Pharmaceuticals, Inc D A N, C F B, K M B, Carlsbad, CA
    Neurology 86:890-7. 2016
    ....
  39. pmc Assessing spinal muscular atrophy with quantitative ultrasound
    Jim 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)...
  40. doi request reprint Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy
    Jacqueline Montes
    Department of Neurology, Columbia University Medical Center, 180 Ft Washington Avenue, Fifth Floor, New York, New York, 10032, USA
    Muscle Nerve 52:942-7. 2015
    ..With clinical trials underway, our objective was to construct a composite score of global function that could discriminate among people with spinal muscular atrophy (SMA)...
  41. doi request reprint Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up
    Anne M Connolly
    Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA
    Muscle Nerve 54:681-9. 2016
    ..Outcomes sensitive to change over time in non-ambulatory boys/men with Duchenne muscular dystrophy (DMD) are not well-established...
  42. ncbi request reprint Electroencephalographic correlate of juvenile Huntington's disease
    Nicole 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...
  43. pmc Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2
    Pankaj B Agrawal
    Genomics Program, the Divisions of Genetics and Neonatology, Children s Hospital Boston, Boston, MA, 02115, USA
    Am J Hum Genet 80:162-7. 2007
    ....
  44. ncbi request reprint Posterior spinal fusion for scoliosis in duchenne muscular dystrophy diminishes the rate of respiratory decline
    Maria V Velasco
    Department of Medicine Division of Respiratory Diseases, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Spine (Phila Pa 1976) 32:459-65. 2007
    ..To assess the rate of decline in pulmonary function in Duchenne muscular dystrophy (DMD) before and after posterior spinal fusion for scoliosis...
  45. pmc LGMD2I in a North American population
    Peter 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)...
  46. ncbi request reprint Multifocal slowing of nerve conduction in metachromatic leukodystrophy
    Carol 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...
  47. pmc Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
    Steven E Boyden
    Division of Genetics, Program in Genomics, and The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA 02115, USA
    Neurogenetics 13:115-24. 2012
    ..Our data establish the importance of MEGF10 in human skeletal muscle and suggest satellite cell dysfunction as a novel myopathic mechanism...
  48. pmc Assessing electrical impedance alterations in spinal muscular atrophy via the finite element method
    Mina Jafarpoor
    Beth Israel Deaconess Medical Center, Department of Neurology, Boston, MA 02215, USA
    Conf Proc IEEE Eng Med Biol Soc 2011:1871-4. 2011
    ..These results support that alterations in the primary characteristics of muscle impact the surface impedance measurements in meaningful and likely predictable ways...
  49. doi request reprint Juvenile myasthenia gravis
    Laura M Chiang
    Department of Neurology, Children s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts 02115, USA
    Muscle Nerve 39:423-31. 2009
    ..Steroid-sparing agents may contribute to the management of refractory cases, but they should be used with caution due to the risk of malignancy...
  50. doi request reprint Characterizing spinal muscular atrophy with electrical impedance myography
    Seward 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...
  51. ncbi request reprint Osteoid osteoma presenting with focal neurologic signs
    Gary 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...
  52. ncbi request reprint Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome
    R 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...
  53. ncbi request reprint An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients
    Jessica 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...
  54. doi request reprint Inherited myopathies and muscular dystrophies
    Michael 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...
  55. doi request reprint Motor variant of chronic inflammatory demyelinating polyneuropathy in a child
    Durriyah D Sinno
    Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon
    Pediatr Neurol 38:426-9. 2008
    ....