Spinal Muscular Atrophy
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A Neonate with Micrognathia and Hypotonia
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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Clinicopathologic Conference, Infant Botulism, Case 3-2024
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Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Sydenham Chorea
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Pyruvate Dehydrogenase Deficiency (PDCD)
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The Autosomal Recessive Cerebellar Ataxias
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
The Floppy Infant: Evaluation of Hypotonia
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Human Botulism Immune Globulin for the Treatment of Infant Botulism
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Case 35-2006: A Newborn Boy with Hypotonia
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Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
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Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
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Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
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Postoperative Neurologic Complications after Open Heart Surgery on Young Infants
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Early-Onset Respiratory Failure Caused by Severe Congenital Neuromuscular Disease
J Pediatr 124:636-638, Sandler,D.L.,et al, 1994
Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
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Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
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Transsection of the Spinal Cord Associated with Breech Delivery
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Causal Heterogeneity in Isolated Lissencephaly
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A Clinical Study of Noonan Syndrome
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The Spectrum of Lissencephaly:Report of Ten Patients Analyzed by Magnetic Resonance Imaging
Ann Neurol 30:139-146, Barkovich,A.J.,et al, 1991
Congenital Inflammatory Myopathy
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Congenital Muscular Dystrophy
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Alternating Hemiplegia of Childhood
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Clin. Path. Conference
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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
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Cerebro-ocular Dysgenesis (Walker-Warberg Syndrome) :Neuropathologic & Etiologic Analysis
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The Causes of Cerebral Palsy
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Congenital Myotonic Dystrophy
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Adverse Effects on Offspring of Maternal Alcohol Abuse During Pregnancy
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Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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The Neuropathy of Acute Intermittent Porphyria
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Neuro CPC of MGH
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